C13C (p.Cys13Cys) variant of PSTPIP1 (O43586)
C13C (p.Cys13Cys) in PSTPIP1 (O43586) is a synonymous 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.
C13C (p.Cys13Cys) variant details
- p.Cys13Cys
- rs148361080
- gnomAD 15-76994804-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.107
- CADD 2.02
- Population evidence available
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.404
- Literature evidence available