L5M (p.Leu5Met) variant of PSTPIP1 (O43586)
L5M (p.Leu5Met) in PSTPIP1 (O43586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L5M (p.Leu5Met) variant details
- p.Leu5Met
- gnomAD 15-76995415-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- CADD 15.50
- SIFT 0.09
- Population evidence available
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.0346
- Literature evidence available