S9I (p.Ser9Ile) variant of MSH6 (DNA mismatch repair protein Msh6)
S9I (p.Ser9Ile) in MSH6 (DNA mismatch repair protein Msh6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
S9I (p.Ser9Ile) variant details
- p.Ser9Ile
- rs1572697767
- ClinGen CA346734508
- ClinVar RCV002428995
- Ensembl rs1572697767
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.46
- MetaLR 0.44
- MetaSVM -0.23
- CADD 24.00
- PolyPhen-2 0.04
- SIFT 0.01
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- 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)