L30M (p.Leu30Met) variant of PSTPIP1 (O43586)
L30M (p.Leu30Met) in PSTPIP1 (O43586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L30M (p.Leu30Met) variant details
- p.Leu30Met
- gnomAD 15-77018199-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- MetaLR 0.10
- MetaSVM -0.81
- CADD 18.80
- PolyPhen-2 0.03
- SIFT 0.23
- Population evidence available
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.045
- Literature evidence available