L25M (p.Leu25Met) variant of PSTPIP1 (O43586)
L25M (p.Leu25Met) in PSTPIP1 (O43586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L25M (p.Leu25Met) variant details
- p.Leu25Met
- gnomAD 15-77018184-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- MetaLR 0.12
- MetaSVM -0.99
- CADD 24.20
- PolyPhen-2 0.97
- SIFT 0.03
- Population evidence available
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.0951
- Literature evidence available