PolyPhen-2 prediction of functional effects of human nsSNPs

PolyPhen-2 report for P09651 N73S (rs6533)

Query

Protein AccPositionAA1AA2Description
P0965173NSCanonical; RecName: Full=Heterogeneous nuclear ribonucleoprotein A1; Short=hnRNP A1; AltName: Full=Helix-destabilizing protein; AltName: Full=Single-strand RNA-binding protein; AltName: Full=hnRNP core protein A1; Length: 372

Results

Prediction/Confidence  PolyPhen-2 v2.2.2r398

HumDiv

This mutation is predicted to be benign with a score of 0.253 (sensitivity: 0.91; specificity: 0.88)

Confidence

HumVar

This mutation is predicted to be benign with a score of 0.069 (sensitivity: 0.92; specificity: 0.66)

Confidence

Details

Multiple sequence alignment  UniProtKB/UniRef100 Release 2011_12 (14-Dec-2011)
3D Visualization  PDB/DSSP Snapshot 03-Jan-2012 (78304 Structures)