G21C (p.Gly21Cys) variant of PSTPIP1 (O43586)
G21C (p.Gly21Cys) in PSTPIP1 (O43586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G21C (p.Gly21Cys) variant details
- p.Gly21Cys
- rs2075554964
- gnomAD 15-76995424-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.097
- CADD 6.97
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.0471
- Literature evidence available