S9N (p.Ser9Asn) variant of MSH6 (DNA mismatch repair protein Msh6)
S9N (p.Ser9Asn) in MSH6 (DNA mismatch repair protein Msh6) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
S9N (p.Ser9Asn) variant details
- p.Ser9Asn
- rs1572697767
- ClinGen CA346734506
- ClinVar RCV001048576
- ClinVar RCV002436591
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.27
- MetaLR 0.41
- MetaSVM -0.50
- CADD 20.40
- PolyPhen-2 0.02
- SIFT 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-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)