C36R (p.Cys36Arg) variant of PSTPIP1 (O43586)
C36R (p.Cys36Arg) in PSTPIP1 (O43586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
C36R (p.Cys36Arg) variant details
- p.Cys36Arg
- gnomAD 15-77018217-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- MetaLR 0.16
- MetaSVM -0.78
- CADD 27.90
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.0433
- Literature evidence available