L25H (p.Leu25His) variant of PSTPIP1 (O43586)
L25H (p.Leu25His) in PSTPIP1 (O43586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L25H (p.Leu25His) variant details
- p.Leu25His
- gnomAD 15-76995431-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- CADD 18.20
- SIFT 0.00
- Population evidence available
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.0951
- Literature evidence available