S9G (p.Ser9Gly) variant of MSH6 (DNA mismatch repair protein Msh6)
S9G (p.Ser9Gly) 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 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
S9G (p.Ser9Gly) variant details
- p.Ser9Gly
- rs41294986
- ClinGen CA010478
- cosmic curated COSV99316
- ClinVar RCV000130571
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.29
- MetaLR 0.41
- MetaSVM -0.42
- CADD 23.90
- PolyPhen-2 0.00
- SIFT 0.04
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available
- Cited in: American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology… (PMID 24493721)
- Cited in: Endometrial cancer: a review and current management strategies: part I. (PMID 24905773)