A63V (p.Ala63Val) variant of PMS1 (PMS1 protein homolog 1)
A63V (p.Ala63Val) in PMS1 (PMS1 protein homolog 1) is a missense 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, and structural context.
A63V (p.Ala63Val) variant details
- p.Ala63Val
- Ensembl rs2106233250
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.36
- CADD 21.80
- PolyPhen-2 0.09
- SIFT 0.24
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.0781