T26N (p.Thr26Asn) variant of CHEK2 (O96017)
T26N (p.Thr26Asn) 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; not specified; Familial cancer of breas. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes published literature and structural context.
T26N (p.Thr26Asn) variant details
- p.Thr26Asn
- rs878854923
- ClinGen CA10583918
- ClinVar RCV000233086
- ClinVar RCV001192413
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not specified; Familial cancer of breas
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- AlphaMissense 0.06
- MetaLR 0.39
- MetaSVM -0.61
- PolyPhen-2 0.00
- SIFT 0.80
- MutPred 0.17
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not specified; 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)