F97S (p.Phe97Ser) variant of KRIT1 (O00522)
F97S (p.Phe97Ser) in KRIT1 (O00522) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in CCM1. The record also includes published literature and structural context.
F97S (p.Phe97Ser) variant details
- p.Phe97Ser
- UniProt VAR 023573
- Pathogenic
- in CCM1
- Missense
- EBI: Pathogenic (in CCM1)
- UniProt: Pathogenic (in CCM1)
- Structural context available
- Cited in: Mutation and expression analysis of the KRIT1 gene associated with cerebral cavernous malformations (CCM1). (PMID 12172908)