A11V (p.Ala11Val) variant of MLH3 (DNA mismatch repair protein Mlh3)
A11V (p.Ala11Val) in MLH3 (DNA mismatch repair protein Mlh3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
A11V (p.Ala11Val) variant details
- p.Ala11Val
- rs1207858644
- ClinGen CA390451928
- ClinVar RCV004049496
- TOPMed rs1207858644
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- REVEL 0.37
- CADD 22.20
- PolyPhen-2 0.03
- SIFT 0.05
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available