W12L (p.Trp12Leu) variant of PSTPIP1 (O43586)
W12L (p.Trp12Leu) in PSTPIP1 (O43586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
W12L (p.Trp12Leu) variant details
- p.Trp12Leu
- rs920122436
- gnomAD 15-76995536-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- CADD 10.50
- SIFT 0.02
- Population evidence available
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.969
- Literature evidence available