N17S (p.Asn17Ser) variant of MLH1 (DNA mismatch repair protein Mlh1)
N17S (p.Asn17Ser) in MLH1 (DNA mismatch repair protein Mlh1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis colorectal neop. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes published literature and structural context.
N17S (p.Asn17Ser) variant details
- p.Asn17Ser
- rs1403203490
- ClinGen CA352060717
- ClinVar RCV000571321
- ClinVar RCV001298949
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis colorectal neop
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- ESM-1b 1.00
- AlphaMissense 0.43
- MutPred 0.73
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)