C36F (p.Cys36Phe) variant of PSTPIP1 (O43586)
C36F (p.Cys36Phe) in PSTPIP1 (O43586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
C36F (p.Cys36Phe) variant details
- p.Cys36Phe
- gnomAD 15-77018218-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.624
- MetaLR 0.17
- MetaSVM -0.71
- CADD 27.40
- 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