A29P (p.Ala29Pro) variant of MLH1 (DNA mismatch repair protein Mlh1)
A29P (p.Ala29Pro) 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 Mismatch repair cancer syndrome 1; Muir-Torré syndrome; Colorectal cancer, hered. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes structural context.
A29P (p.Ala29Pro) variant details
- p.Ala29Pro
- Ensembl rs63750656
- Uncertain significance
- Mismatch repair cancer syndrome 1; Muir-Torré syndrome; Colorectal cancer, hered
- Missense
- Variant Prioritization Score for Impact Estimate 0.92
- ESM-1b 1.00
- AlphaMissense 0.82
- ClinVar: Uncertain significance (Mismatch repair cancer syndrome 1; Muir-Torré syndrome; Colorect)
- EBI: Pathogenic (in LYNCH2)
- UniProt: Pathogenic (in LYNCH2)
- Structural context available