A18T (p.Ala18Thr) variant of PSTPIP1 (O43586)
A18T (p.Ala18Thr) in PSTPIP1 (O43586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A18T (p.Ala18Thr) variant details
- p.Ala18Thr
- rs771172891
- gnomAD 15-76995451-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- CADD 12.60
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00096)
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.644
- Literature evidence available