V45M (p.Val45Met) variant of MLH3 (DNA mismatch repair protein Mlh3)
V45M (p.Val45Met) in MLH3 (DNA mismatch repair protein Mlh3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
V45M (p.Val45Met) variant details
- p.Val45Met
- Ensembl rs2139612846
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.33
- CADD 24.20
- PolyPhen-2 0.91
- SIFT 0.04
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available