H19Y (p.His19Tyr) variant of PSTPIP1 (O43586)
H19Y (p.His19Tyr) in PSTPIP1 (O43586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
H19Y (p.His19Tyr) variant details
- p.His19Tyr
- gnomAD 15-77018166-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.602
- MetaLR 0.07
- MetaSVM -1.12
- CADD 25.30
- PolyPhen-2 0.93
- SIFT 0.03
- Population evidence available
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.391
- Literature evidence available