V7I (p.Val7Ile) variant of CHEK2 (O96017)
V7I (p.Val7Ile) 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 0.49 / 1. The record also includes published literature and structural context.
V7I (p.Val7Ile) variant details
- p.Val7Ile
- rs1601854266
- ClinGen CA411092073
- ClinVar RCV001014002
- ClinVar RCV002550789
- Uncertain significance
- Familial cancer of breast; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- AlphaMissense 0.10
- MetaLR 0.64
- MetaSVM -0.29
- PolyPhen-2 0.00
- SIFT 0.13
- MutPred 0.07
- 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)