V43L (p.Val43Leu) variant of MLH3 (DNA mismatch repair protein Mlh3)
V43L (p.Val43Leu) in MLH3 (DNA mismatch repair protein Mlh3) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
V43L (p.Val43Leu) variant details
- p.Val43Leu
- rs554073121
- ClinGen CA7276090
- ClinVar RCV004056974
- ExAC rs554073121
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.62
- CADD 23.30
- PolyPhen-2 0.64
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available