K675N (p.Lys675Asn) variant of KRIT1 (O00522)
K675N (p.Lys675Asn) in KRIT1 (O00522) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Cerebral cavernous malformation. The record also includes published literature and structural context.
K675N (p.Lys675Asn) variant details
- p.Lys675Asn
- rs2535703286
- ClinGen CA368138965
- ClinVar RCV003525294
- Likely pathogenic
- Cerebral cavernous malformation
- Missense
- ClinVar: Likely pathogenic (Cerebral cavernous malformation)
- EBI: Likely pathogenic
- UniProt: Likely 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)