L31V (p.Leu31Val) variant of MLH3 (DNA mismatch repair protein Mlh3)
L31V (p.Leu31Val) 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 0.56 / 1. The record also includes structural context.
L31V (p.Leu31Val) variant details
- p.Leu31Val
- rs2139613860
- ClinGen CA390451657
- ClinVar RCV004055074
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- AlphaMissense 0.12
- MetaLR 0.65
- MetaSVM 0.20
- PolyPhen-2 0.96
- SIFT 0.17
- MutPred 0.47
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available