A111S (p.Ala111Ser) variant of MLH1 (DNA mismatch repair protein Mlh1)
A111S (p.Ala111Ser) in MLH1 (DNA mismatch repair protein Mlh1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic 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 0.62 / 1. The record also includes structural context.
A111S (p.Ala111Ser) variant details
- p.Ala111Ser
- Ensembl rs587779005
- Likely pathogenic
- Mismatch repair cancer syndrome 1; Muir-Torré syndrome; Colorectal cancer, hered
- Missense
- Variant Prioritization Score for Impact Estimate 0.624
- ESM-1b 1.00
- AlphaMissense 0.17
- ClinVar: Likely pathogenic (Mismatch repair cancer syndrome 1; Muir-Torré syndrome; Colorect)
- EBI: Likely pathogenic (in LYNCH2)
- UniProt: Likely pathogenic (in LYNCH2)
- Structural context available