Q27H (p.Gln27His) variant of PSTPIP1 (O43586)
Q27H (p.Gln27His) in PSTPIP1 (O43586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Q27H (p.Gln27His) variant details
- p.Gln27His
- gnomAD 15-77018192-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- MetaLR 0.20
- MetaSVM -0.72
- CADD 22.30
- PolyPhen-2 0.09
- SIFT 0.03
- Population evidence available
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.0981
- Literature evidence available