A5G (p.Ala5Gly) variant of MLH1 (DNA mismatch repair protein Mlh1)
A5G (p.Ala5Gly) 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 0.26 / 1. The record also includes structural context.
A5G (p.Ala5Gly) variant details
- p.Ala5Gly
- Ensembl rs878853779
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- ESM-1b 0.00
- AlphaMissense 0.21
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available