M47V (p.Met47Val) variant of MLH3 (DNA mismatch repair protein Mlh3)
M47V (p.Met47Val) 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 0.33 / 1. The record also includes population frequency data and structural context.
M47V (p.Met47Val) variant details
- p.Met47Val
- rs1892522866
- ClinGen CA390451502
- ClinVar RCV004283405
- TOPMed rs1892522866
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.10
- CADD 14.50
- PolyPhen-2 0.29
- SIFT 0.07
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available