Q201E (p.Gln201Glu) variant of KRIT1 (O00522)
Q201E (p.Gln201Glu) in KRIT1 (O00522) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Cerebral cavernous malformation. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes published literature and structural context.
Q201E (p.Gln201Glu) variant details
- p.Gln201Glu
- rs137853140
- ClinGen CA253589
- ClinVar RCV000006080
- ClinVar RCV000522732
- Pathogenic
- not provided; Cerebral cavernous malformation
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- AlphaMissense 0.08
- MetaLR 0.46
- MetaSVM -0.31
- PolyPhen-2 0.02
- SIFT 0.10
- EVE 0.16
- ClinVar: Pathogenic (not provided; Cerebral cavernous malformation)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Krit1 missense mutations lead to splicing errors in cerebral cavernous malformation. (PMID 11941540)
- Cited in: Clinical, magnetic resonance imaging, and genetic study of 5 Italian families with cerebral cavernous malformation. (PMID 17562932)