L26M (p.Leu26Met) variant of PSTPIP1 (O43586)
L26M (p.Leu26Met) in PSTPIP1 (O43586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L26M (p.Leu26Met) variant details
- p.Leu26Met
- gnomAD 15-77018187-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- MetaLR 0.11
- MetaSVM -0.91
- CADD 23.30
- PolyPhen-2 0.80
- SIFT 0.05
- Population evidence available
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.178
- Literature evidence available