C13R (p.Cys13Arg) variant of PSTPIP1 (O43586)
C13R (p.Cys13Arg) in PSTPIP1 (O43586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
C13R (p.Cys13Arg) variant details
- p.Cys13Arg
- rs899879477
- gnomAD 15-76994802-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.11
- CADD 8.41
- SIFT 0.00
- Population evidence available
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.404
- Literature evidence available