M1V (p.Met1Val) variant of KRIT1 (O00522)
M1V (p.Met1Val) in KRIT1 (O00522) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Cerebral cavernous malformation. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes published literature and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs1554539120
- ClinGen CA368167328
- ClinVar RCV000536000
- ClinVar RCV000578776
- Pathogenic/Likely pathogenic
- not provided; Cerebral cavernous malformation
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- MetaLR 0.55
- MetaSVM -0.12
- PolyPhen-2 0.00
- SIFT 0.00
- EVE 0.33
- MutPred 1.00
- ClinVar: Pathogenic/Likely 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)