S15I (p.Ser15Ile) variant of CHEK2 (O96017)
S15I (p.Ser15Ile) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes published literature and structural context.
S15I (p.Ser15Ile) variant details
- p.Ser15Ile
- rs2054337550
- ClinGen CA411091907
- ClinVar RCV001232288
- Ensembl rs2054337550
- Uncertain significance
- Familial cancer of breast
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- AlphaMissense 0.09
- MetaLR 0.71
- MetaSVM 0.04
- PolyPhen-2 0.43
- SIFT 0.00
- MutPred 0.16
- ClinVar: Uncertain significance (Familial cancer of breast)
- 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)