A29T (p.Ala29Thr) variant of MLH1 (DNA mismatch repair protein Mlh1)
A29T (p.Ala29Thr) in MLH1 (DNA mismatch repair protein Mlh1) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in LYNCH2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes structural context.
A29T (p.Ala29Thr) variant details
- p.Ala29Thr
- Ensembl rs63750656
- Pathogenic
- in LYNCH2
- Missense
- Variant Prioritization Score for Impact Estimate 0.648
- ESM-1b 1.00
- AlphaMissense 0.23
- EBI: Pathogenic (in LYNCH2)
- UniProt: Pathogenic (in LYNCH2)
- Structural context available