A31C (p.Ala31Cys) variant of MLH1 (DNA mismatch repair protein Mlh1)
A31C (p.Ala31Cys) in MLH1 (DNA mismatch repair protein Mlh1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
A31C (p.Ala31Cys) variant details
- p.Ala31Cys
- rs63749994
- ClinGen CA013075
- ClinVar RCV000115487
- ClinVar RCV000235172
- Conflicting interpretations
- Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.909
- ESM-1b 1.00
- AlphaMissense 0.80
- ClinVar: Conflicting classifications of pathogenicity (Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-)
- EBI: Pathogenic (in LYNCH2)
- UniProt: Pathogenic (in LYNCH2)
- Structural context available
- Cited in: A cell-free assay for the functional analysis of variants of the mismatch repair protein MLH1. (PMID 20020535)
- Cited in: Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal… (PMID 11598466)