Q84* (p.Gln84Ter) variant of KRIT1 (O00522)
Q84* (p.Gln84Ter) in KRIT1 (O00522) 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
Q84* (p.Gln84Ter) variant details
- p.Gln84Ter
- rs751651833
- ClinGen CA4339444
- ClinVar RCV001387434
- ExAC rs751651833
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.855
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Cited in: Hemorrhage from cavernous malformations of the brain: definition and reporting standards. Angioma Alliance Scientific… (PMID 18974380)
- Cited in: Familial Cerebral Cavernous Malformations. (PMID 20301470)