A29G (p.Ala29Gly) variant of MLH1 (DNA mismatch repair protein Mlh1)
A29G (p.Ala29Gly) in MLH1 (DNA mismatch repair protein Mlh1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Lynch syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes published literature and structural context.
A29G (p.Ala29Gly) variant details
- p.Ala29Gly
- rs63750216
- ClinGen CA012745
- ClinVar RCV000075896
- ClinVar RCV000218998
- Pathogenic
- Lynch syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.665
- ESM-1b 1.00
- AlphaMissense 0.26
- ClinVar: Pathogenic (Lynch syndrome)
- EBI: Pathogenic (in LYNCH2)
- UniProt: Pathogenic (in LYNCH2)
- Structural context available
- Cited in: Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal… (PMID 11598466)
- Cited in: American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. (PMID 20065170)