V24L (p.Val24Leu) variant of PSTPIP1 (O43586)
V24L (p.Val24Leu) 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.
V24L (p.Val24Leu) variant details
- p.Val24Leu
- gnomAD 15-77018181-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- MetaLR 0.04
- MetaSVM -1.03
- CADD 20.60
- PolyPhen-2 0.05
- SIFT 0.05
- Population evidence available
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.621
- Literature evidence available