S467L (p.Ser467Leu) variant of KRIT1 (O00522)
S467L (p.Ser467Leu) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes published literature and structural context.
S467L (p.Ser467Leu) variant details
- p.Ser467Leu
- rs1554513911
- ClinGen CA368146965
- ClinVar RCV000985202
- Ensembl rs1554513911
- Likely pathogenic
- Cerebral cavernous malformation
- Missense
- Variant Prioritization Score for Impact Estimate 0.711
- AlphaMissense 0.98
- MetaLR 0.74
- MetaSVM 0.60
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.51
- ClinVar: Likely pathogenic (Cerebral cavernous malformation)
- 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)