D6H (p.Asp6His) variant of CHEK2 (O96017)
D6H (p.Asp6His) 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 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
D6H (p.Asp6His) variant details
- p.Asp6His
- rs1555932944
- ClinGen CA411092089
- ClinVar RCV000635765
- ClinVar RCV002404772
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Familial cancer of breast
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- AlphaMissense 0.13
- MetaLR 0.73
- MetaSVM 0.03
- PolyPhen-2 0.68
- SIFT 0.00
- MutPred 0.20
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Familial cancer of brea)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)