Y684S (p.Tyr684Ser) variant of MLH1 (DNA mismatch repair protein Mlh1)
Y684S (p.Tyr684Ser) 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; not provided; Hereditary cancer-pr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
Y684S (p.Tyr684Ser) variant details
- p.Tyr684Ser
- rs267607886
- ClinGen CA16617936
- cosmic curated COSV10585
- ClinVar RCV000485347
- Conflicting interpretations
- Hereditary nonpolyposis colorectal neoplasms; not provided; Hereditary cancer-pr
- Missense
- Variant Prioritization Score for Impact Estimate 0.795
- REVEL 0.92
- ESM-1b 1.00
- AlphaMissense 0.78
- CADD 28.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Hereditary nonpolyposis colorectal neoplasms; not provided; Here)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- 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)