R29H (p.Arg29His) variant of MSH6 (DNA mismatch repair protein Msh6)
R29H (p.Arg29His) in MSH6 (DNA mismatch repair protein Msh6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
R29H (p.Arg29His) variant details
- p.Arg29His
- rs1469162224
- ClinGen CA346734809
- ClinVar RCV003760838
- ClinVar RCV005363182
- Conflicting interpretations
- Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.18
- MetaLR 0.32
- MetaSVM -0.68
- CADD 18.90
- PolyPhen-2 0.03
- SIFT 0.19
- ClinVar: Conflicting classifications of pathogenicity (Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- 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)