Q27Q (p.Gln27Gln) variant of PSTPIP1 (O43586)
Q27Q (p.Gln27Gln) in PSTPIP1 (O43586) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Q27Q (p.Gln27Gln) variant details
- p.Gln27Gln
- gnomAD 15-77018192-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.465
- CADD 9.55
- Population evidence available
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.0981
- Literature evidence available