H13N (p.His13Asn) variant of CHEK2 (O96017)
H13N (p.His13Asn) 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 0.51 / 1. The record also includes published literature and structural context.
H13N (p.His13Asn) variant details
- p.His13Asn
- rs1601854066
- ClinGen CA411091958
- cosmic curated COSV60423
- ClinVar RCV000792567
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Familial cancer of breast
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- AlphaMissense 0.08
- MetaLR 0.71
- MetaSVM -0.06
- PolyPhen-2 0.00
- SIFT 0.09
- MutPred 0.17
- 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)