Q10L (p.Gln10Leu) variant of CHEK2 (O96017)
Q10L (p.Gln10Leu) 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 0.60 / 1. The record also includes published literature and structural context.
Q10L (p.Gln10Leu) variant details
- p.Gln10Leu
- rs2146156178
- ClinGen CA411092003
- ClinVar RCV001889528
- Ensembl rs2146156178
- Uncertain significance
- Familial cancer of breast
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- AlphaMissense 0.08
- MetaLR 0.72
- MetaSVM 0.77
- PolyPhen-2 0.18
- SIFT 0.01
- MutPred 0.16
- 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)