V24G (p.Val24Gly) variant of MLH1 (DNA mismatch repair protein Mlh1)
V24G (p.Val24Gly) in MLH1 (DNA mismatch repair protein Mlh1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Breast and/or ovarian cancer. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes population frequency data and structural context.
V24G (p.Val24Gly) variant details
- p.Val24Gly
- rs754533438
- ClinGen CA038025
- ClinVar RCV001799420
- ExAC rs754533438
- Uncertain significance
- Breast and/or ovarian cancer
- Missense
- Variant Prioritization Score for Impact Estimate 0.96
- ESM-1b 1.00
- AlphaMissense 0.99
- MutPred 0.85
- ClinVar: Uncertain significance (Breast and/or ovarian cancer)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available