S556N (p.Ser556Asn) variant of MLH1 (DNA mismatch repair protein Mlh1)
S556N (p.Ser556Asn) 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 cancer-predisposing syndrome; Mismatch repair cancer syndrome 1; Muir. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
S556N (p.Ser556Asn) variant details
- p.Ser556Asn
- rs63751596
- ClinGen CA352060789
- ClinVar RCV000520479
- ClinVar RCV001012628
- Pathogenic/Likely pathogenic
- Hereditary cancer-predisposing syndrome; Mismatch repair cancer syndrome 1; Muir
- Missense
- Variant Prioritization Score for Impact Estimate 0.857
- ESM-1b 1.00
- AlphaMissense 0.81
- MutPred 0.55
- ClinVar: Pathogenic/Likely pathogenic (Hereditary cancer-predisposing syndrome; Mismatch repair cancer)
- 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)