A555V (p.Ala555Val) variant of KRIT1 (O00522)
A555V (p.Ala555Val) 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 0.78 / 1. The record also includes published literature and structural context.
A555V (p.Ala555Val) variant details
- p.Ala555Val
- rs2131326892
- ClinGen CA368141838
- ClinVar RCV001728076
- ClinVar RCV005622122
- Pathogenic
- not provided; Cerebral cavernous malformation
- Missense
- Variant Prioritization Score for Impact Estimate 0.776
- AlphaMissense 0.95
- MetaLR 0.83
- MetaSVM 0.80
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.46
- ClinVar: Pathogenic (not provided; 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)