Q27* (p.Gln27Ter) variant of CHEK2 (O96017)
Q27* (p.Gln27Ter) in CHEK2 (O96017) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
Q27* (p.Gln27Ter) variant details
- p.Gln27Ter
- rs376736188
- ClinGen CA411091646
- cosmic curated COSV60422
- ClinVar RCV000635876
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.638
- AlphaMissense 0.08
- MetaLR 0.80
- MetaSVM 0.30
- CADD 35.00
- PolyPhen-2 0.65
- SIFT 0.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Lynch Syndrome. (PMID 20301390)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)