V43D (p.Val43Asp) variant of MLH3 (DNA mismatch repair protein Mlh3)
V43D (p.Val43Asp) in MLH3 (DNA mismatch repair protein Mlh3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
V43D (p.Val43Asp) variant details
- p.Val43Asp
- gnomAD rs1346456329
- Missense
- Variant Prioritization Score for Impact Estimate 0.776
- REVEL 0.94
- CADD 27.10
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available