Y22H (p.Tyr22His) variant of PSTPIP1 (O43586)
Y22H (p.Tyr22His) in PSTPIP1 (O43586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Y22H (p.Tyr22His) variant details
- p.Tyr22His
- gnomAD 15-77018175-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- MetaLR 0.11
- MetaSVM -0.97
- CADD 27.50
- PolyPhen-2 0.99
- SIFT 0.02
- Population evidence available
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.207
- Literature evidence available