H22Y (p.His22Tyr) variant of CHEK2 (O96017)
H22Y (p.His22Tyr) in CHEK2 (O96017) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Familial cancer of breast; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes published literature and structural context.
H22Y (p.His22Tyr) variant details
- p.His22Tyr
- rs1601853823
- ClinGen CA411091760
- ClinVar RCV001025344
- ClinVar RCV001299690
- Uncertain significance
- not provided; Familial cancer of breast; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- AlphaMissense 0.08
- MetaLR 0.59
- MetaSVM -0.25
- PolyPhen-2 0.02
- SIFT 0.02
- MutPred 0.19
- ClinVar: Uncertain significance (not provided; Familial cancer of breast; Hereditary cancer-predi)
- 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)