Y343D (p.Tyr343Asp) variant of MLH1 (DNA mismatch repair protein Mlh1)
Y343D (p.Tyr343Asp) 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 Hereditary nonpolyposis colorectal neoplasms; Mismatch repair cancer syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes structural context.
Y343D (p.Tyr343Asp) variant details
- p.Tyr343Asp
- Ensembl rs2125854797
- Likely pathogenic
- Hereditary nonpolyposis colorectal neoplasms; Mismatch repair cancer syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.987
- ESM-1b 1.00
- AlphaMissense 0.97
- ClinVar: Likely pathogenic (Hereditary nonpolyposis colorectal neoplasms; Mismatch repair ca)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available