C13* (p.Cys13Ter) variant of PSTPIP1 (O43586)
C13* (p.Cys13Ter) in PSTPIP1 (O43586) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
C13* (p.Cys13Ter) variant details
- p.Cys13Ter
- gnomAD 15-76995429-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.303
- CADD 15.20
- Most common in the Latino/Admixed American population (allele frequency 3.4e-05)
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.404
- Literature evidence available