G32D (p.Gly32Asp) variant of MSH6 (DNA mismatch repair protein Msh6)
G32D (p.Gly32Asp) 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 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
G32D (p.Gly32Asp) variant details
- p.Gly32Asp
- rs771426932
- ClinGen CA073654
- cosmic curated COSV10940
- ClinVar RCV000479170
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.09
- MetaLR 0.33
- MetaSVM -0.87
- CADD 11.80
- PolyPhen-2 0.01
- SIFT 1.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.8e-05)
- 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: Lynch Syndrome. (PMID 20301390)