V54L (p.Val54Leu) variant of MLH3 (DNA mismatch repair protein Mlh3)
V54L (p.Val54Leu) 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 0.85 / 1. The record also includes population frequency data and structural context.
V54L (p.Val54Leu) variant details
- p.Val54Leu
- rs2503335497
- ClinGen CA390451452
- ClinVar RCV004366376
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.846
- REVEL 0.90
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available