S5I (p.Ser5Ile) variant of MSH6 (DNA mismatch repair protein Msh6)
S5I (p.Ser5Ile) 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 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
S5I (p.Ser5Ile) variant details
- p.Ser5Ile
- rs532585602
- ClinGen CA346734485
- ClinVar RCV002389903
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- REVEL 0.56
- MetaLR 0.60
- MetaSVM 0.18
- CADD 26.70
- PolyPhen-2 0.50
- SIFT 0.02
- 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 9.9e-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)