R90* (p.Arg90Ter) variant of KRIT1 (O00522)
R90* (p.Arg90Ter) 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 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
R90* (p.Arg90Ter) variant details
- p.Arg90Ter
- rs1563313372
- ClinGen CA368164802
- ClinVar RCV000721881
- ClinVar RCV000803135
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.876
- CADD 41.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- 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)