P3L (p.Pro3Leu) variant of PSTPIP1 (O43586)
P3L (p.Pro3Leu) in PSTPIP1 (O43586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P3L (p.Pro3Leu) variant details
- p.Pro3Leu
- rs997027588
- gnomAD 15-76994812-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.126
- CADD 2.42
- SIFT 0.01
- Most common in the Middle Eastern population (allele frequency 0.0063)
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score 0.0145
- Literature evidence available