A18G (p.Ala18Gly) variant of PSTPIP1 (O43586)
A18G (p.Ala18Gly) in PSTPIP1 (O43586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A18G (p.Ala18Gly) variant details
- p.Ala18Gly
- gnomAD 15-76995452-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- CADD 9.70
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.644
- Literature evidence available