S16G (p.Ser16Gly) variant of CHEK2 (O96017)
S16G (p.Ser16Gly) in CHEK2 (O96017) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes published literature and structural context.
S16G (p.Ser16Gly) variant details
- p.Ser16Gly
- rs1426424086
- ClinGen CA411091897
- ClinVar RCV001183420
- gnomAD rs1426424086
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- AlphaMissense 0.07
- MetaLR 0.62
- MetaSVM -0.02
- PolyPhen-2 0.76
- SIFT 0.04
- MutPred 0.21
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)