S5A (p.Ser5Ala) variant of CHEK2 (O96017)
S5A (p.Ser5Ala) 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 0.44 / 1. The record also includes published literature and structural context.
S5A (p.Ser5Ala) variant details
- p.Ser5Ala
- rs1601854328
- ClinGen CA411092107
- ClinVar RCV001314334
- Ensembl rs1601854328
- Uncertain significance
- Familial cancer of breast
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- AlphaMissense 0.06
- MetaLR 0.38
- MetaSVM -0.68
- PolyPhen-2 0.00
- SIFT 0.92
- MutPred 0.07
- 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)