Y684D (p.Tyr684Asp) variant of MLH1 (DNA mismatch repair protein Mlh1)
Y684D (p.Tyr684Asp) 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; Mismatch repair cancer syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
Y684D (p.Tyr684Asp) variant details
- p.Tyr684Asp
- rs1386031101
- ClinGen CA352068119
- ClinVar RCV000821078
- ClinVar RCV005036215
- Likely pathogenic
- Hereditary nonpolyposis colorectal neoplasms; Mismatch repair cancer syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.953
- ESM-1b 1.00
- AlphaMissense 0.98
- MutPred 0.83
- ClinVar: Likely pathogenic (Hereditary nonpolyposis colorectal neoplasms; Mismatch repair ca)
- 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)