G32C (p.Gly32Cys) variant of MSH6 (DNA mismatch repair protein Msh6)
G32C (p.Gly32Cys) in MSH6 (DNA mismatch repair protein Msh6) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
G32C (p.Gly32Cys) variant details
- p.Gly32Cys
- rs776859837
- ClinGen CA073625
- ClinVar RCV000198127
- ClinVar RCV000480324
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.23
- MetaLR 0.41
- MetaSVM -0.57
- CADD 19.90
- PolyPhen-2 0.13
- SIFT 0.07
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- 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)
- Cited in: Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal… (PMID 11598466)