G6A (p.Gly6Ala) variant of MLH1 (DNA mismatch repair protein Mlh1)
G6A (p.Gly6Ala) in MLH1 (DNA mismatch repair protein Mlh1) 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 0.64 / 1. The record also includes structural context.
G6A (p.Gly6Ala) variant details
- p.Gly6Ala
- TOPMed rs2080887074
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.64
- ESM-1b 1.00
- AlphaMissense 0.21
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available