R28L (p.Arg28Leu) variant of PSTPIP1 (O43586)
R28L (p.Arg28Leu) in PSTPIP1 (O43586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R28L (p.Arg28Leu) variant details
- p.Arg28Leu
- gnomAD 15-76995458-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0502
- CADD 0.53
- SIFT 0.14
- Population evidence available
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.331
- Literature evidence available