S16N (p.Ser16Asn) variant of CHEK2 (O96017)
S16N (p.Ser16Asn) in CHEK2 (O96017) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial cancer of breast; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes published literature and structural context.
S16N (p.Ser16Asn) variant details
- p.Ser16Asn
- rs1060502705
- ClinGen CA16616581
- ClinVar RCV000470829
- ClinVar RCV003278816
- Uncertain significance
- Familial cancer of breast; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- AlphaMissense 0.09
- MetaLR 0.64
- MetaSVM -0.30
- PolyPhen-2 0.04
- SIFT 0.05
- MutPred 0.09
- ClinVar: Uncertain significance (Familial cancer of breast; Hereditary cancer-predisposing syndro)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National… (PMID 17508274)