Y22* (p.Tyr22Ter) variant of PSTPIP1 (O43586)
Y22* (p.Tyr22Ter) in PSTPIP1 (O43586) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Y22* (p.Tyr22Ter) variant details
- p.Tyr22Ter
- gnomAD 15-77018177-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.263
- CADD 25.80
- Population evidence available
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.207
- Literature evidence available