S44Y (p.Ser44Tyr) variant of MLH1 (DNA mismatch repair protein Mlh1)
S44Y (p.Ser44Tyr) 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 Lynch syndrome; Colorectal cancer, hereditary nonpolyposis, type 2; Hereditary c. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
S44Y (p.Ser44Tyr) variant details
- p.Ser44Tyr
- rs63751109
- ClinGen CA352035364
- ClinVar RCV000758568
- ClinVar RCV002386318
- Pathogenic/Likely pathogenic
- Lynch syndrome; Colorectal cancer, hereditary nonpolyposis, type 2; Hereditary c
- Missense
- Variant Prioritization Score for Impact Estimate 0.966
- ESM-1b 1.00
- AlphaMissense 0.99
- MutPred 0.88
- ClinVar: Pathogenic/Likely pathogenic (Lynch syndrome; Colorectal cancer, hereditary nonpolyposis, type)
- EBI: Pathogenic (in LYNCH2)
- UniProt: Pathogenic (in LYNCH2)
- 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)