N30S (p.Asn30Ser) variant of MLH1 (DNA mismatch repair protein Mlh1)
N30S (p.Asn30Ser) 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 0.69 / 1. The record also includes published literature and structural context.
N30S (p.Asn30Ser) variant details
- p.Asn30Ser
- rs2080903905
- ClinGen CA352061010
- ClinVar RCV001187453
- ClinVar RCV001210115
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis colorectal neop
- Missense
- Variant Prioritization Score for Impact Estimate 0.685
- ESM-1b 1.00
- AlphaMissense 0.13
- MutPred 0.59
- 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)