Q27H (p.Gln27His) variant of CHEK2 (O96017)
Q27H (p.Gln27His) in CHEK2 (O96017) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial cancer of breast. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes published literature and structural context.
Q27H (p.Gln27His) variant details
- p.Gln27His
- rs2054333241
- ClinGen CA411091634
- ClinVar RCV001221109
- Ensembl rs2054333241
- Uncertain significance
- Familial cancer of breast
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- AlphaMissense 0.09
- MetaLR 0.80
- MetaSVM 0.23
- PolyPhen-2 0.94
- SIFT 0.00
- MutPred 0.24
- ClinVar: Uncertain significance (Familial cancer of breast)
- 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)