H13R (p.His13Arg) variant of CHEK2 (O96017)
H13R (p.His13Arg) in CHEK2 (O96017) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; not provided; Familial cancer of breast. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes published literature and structural context.
H13R (p.His13Arg) variant details
- p.His13Arg
- rs1064793324
- ClinGen CA16621085
- ClinVar RCV000480755
- ClinVar RCV000547774
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not provided; Familial cancer of breast
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- AlphaMissense 0.06
- MetaLR 0.64
- MetaSVM -0.26
- PolyPhen-2 0.00
- SIFT 0.10
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not provided; Familial)
- 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)