A29V (p.Ala29Val) variant of MLH1 (DNA mismatch repair protein Mlh1)
A29V (p.Ala29Val) 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 Colorectal cancer, hereditary nonpolyposis, type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes published literature and structural context.
A29V (p.Ala29Val) variant details
- p.Ala29Val
- rs63750216
- ClinVar RCV004574880
- Uncertain significance
- Colorectal cancer, hereditary nonpolyposis, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- ESM-1b 0.76
- AlphaMissense 0.19
- MutPred 0.71
- ClinVar: Uncertain significance (Colorectal cancer, hereditary nonpolyposis, type 2)
- EBI: Variant of uncertain significance (in LYNCH2)
- UniProt: Uncertain significance (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)