Q26E (p.Gln26Glu) variant of MLH1 (DNA mismatch repair protein Mlh1)
Q26E (p.Gln26Glu) in MLH1 (DNA mismatch repair protein Mlh1) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes structural context.
Q26E (p.Gln26Glu) variant details
- p.Gln26Glu
- Ensembl rs63749827
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.825
- ESM-1b 1.00
- AlphaMissense 0.61
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available