Q66* (p.Gln66Ter) variant of KRIT1 (O00522)
Q66* (p.Gln66Ter) 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 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
Q66* (p.Gln66Ter) variant details
- p.Gln66Ter
- rs771656368
- ClinGen CA4339454
- ClinVar RCV000624959
- ClinVar RCV005601047
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.848
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- 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)