R127I (p.Arg127Ile) variant of MLH1 (DNA mismatch repair protein Mlh1)
R127I (p.Arg127Ile) in MLH1 (DNA mismatch repair protein Mlh1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hereditary nonpolyposis colorectal neoplasms; not provided; Hereditary cancer-pr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes published literature and structural context.
R127I (p.Arg127Ile) variant details
- p.Arg127Ile
- rs63751595
- ClinGen CA010075
- NCI-TCGA Cosmic COSV5161
- NCI-TCGA Cosmic COSV9921
- Pathogenic/Likely pathogenic
- Hereditary nonpolyposis colorectal neoplasms; not provided; Hereditary cancer-pr
- Missense
- Variant Prioritization Score for Impact Estimate 0.824
- ESM-1b 1.00
- AlphaMissense 0.68
- MutPred 0.49
- ClinVar: Pathogenic/Likely pathogenic (Hereditary nonpolyposis colorectal neoplasms; not provided; Here)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)