Y130H (p.Tyr130His) variant of MLH1 (DNA mismatch repair protein Mlh1)
Y130H (p.Tyr130His) 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; Colorectal cancer, hereditary nonp. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
Y130H (p.Tyr130His) variant details
- p.Tyr130His
- rs587779010
- ClinGen CA010195
- ClinVar RCV002038998
- ClinVar RCV003453982
- Likely pathogenic
- Hereditary nonpolyposis colorectal neoplasms; Colorectal cancer, hereditary nonp
- Missense
- Variant Prioritization Score for Impact Estimate 0.878
- ESM-1b 1.00
- AlphaMissense 0.96
- MutPred 0.55
- ClinVar: Likely pathogenic (Hereditary nonpolyposis colorectal neoplasms; Colorectal cancer,)
- EBI: Likely pathogenic
- UniProt: Likely 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)