V54M (p.Val54Met) variant of PMS1 (PMS1 protein homolog 1)
V54M (p.Val54Met) in PMS1 (PMS1 protein homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V54M (p.Val54Met) variant details
- p.Val54Met
- Ensembl rs2106232986
- Missense
- Variant Prioritization Score for Impact Estimate 0.787
- REVEL 0.87
- CADD 25.40
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.331