W12C (p.Trp12Cys) variant of PSTPIP1 (O43586)
W12C (p.Trp12Cys) in PSTPIP1 (O43586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
W12C (p.Trp12Cys) variant details
- p.Trp12Cys
- rs1386483084
- gnomAD 15-76995507-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- CADD 15.80
- SIFT 0.00
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.969
- Literature evidence available