L69* (p.Leu69Ter) variant of KRIT1 (O00522)
L69* (p.Leu69Ter) 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 0.69 / 1. The record also includes published literature and structural context.
L69* (p.Leu69Ter) variant details
- p.Leu69Ter
- rs1799516672
- ClinGen CA368165896
- ClinVar RCV001382706
- Ensembl rs1799516672
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.692
- AlphaMissense 0.79
- MetaLR 0.73
- MetaSVM 0.60
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.40
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)