A9V (p.Ala9Val) variant of CHEK2 (O96017)
A9V (p.Ala9Val) in CHEK2 (O96017) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Familial cancer of breast. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes published literature and structural context.
A9V (p.Ala9Val) variant details
- p.Ala9Val
- rs1456931393
- ClinGen CA411092020
- ClinVar RCV001183604
- ClinVar RCV002560843
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Familial cancer of breast
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- AlphaMissense 0.08
- MetaLR 0.60
- MetaSVM -0.29
- PolyPhen-2 0.01
- SIFT 0.09
- MutPred 0.26
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Familial cancer of brea)
- 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)