Cerebral cavernous malformation: genes and variants
Cerebral cavernous malformation is linked to 1 analyzed protein (KRIT1). 8 DNA variants are known to cause it; 87 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Also known as: Cerebral cavernous malformation 4
Genes linked to Cerebral cavernous malformation
KRIT1: Krev interaction trapped protein 1
It helps maintain endothelial junctions and vascular integrity as part of the cerebral cavernous malformation signaling complex. Loss-of-function variants cause cerebral cavernous malformation type 1 and predispose to fragile vascular lesions in the brain and spinal cord.
8 disease-causing and 84 uncertain variants in KRIT1 are linked to Cerebral cavernous malformation.
Weakly linked (only a few uncertain records): PIK3CA and FGB.
Known disease-causing variants in Cerebral cavernous malformation
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| KRIT1 D137G | 137 | N-terminal domain similar to Nudix hydrolase dom | Disease-causing (★★) |
| KRIT1 A555V | 555 | FERM | Disease-causing (★★) |
| KRIT1 M1V | 1 | N-terminal domain similar to Nudix hydrolase dom | Disease-causing (★★) |
| KRIT1 Q201E | 201 | Disease-causing (★★) | |
| KRIT1 K675N | 675 | FERM | Disease-causing (★) |
| KRIT1 A648V | 648 | FERM | Disease-causing (★) |
| KRIT1 S467L | 467 | FERM | Disease-causing |
| KRIT1 Y331C | 331 | ANK 2 | Disease-causing |
Frequently asked questions
Which genes are linked to Cerebral cavernous malformation?
In CATVariant, Cerebral cavernous malformation is linked to 1 analyzed protein: KRIT1 (Krev interaction trapped protein 1).
How many genetic variants are linked to Cerebral cavernous malformation?
101 variants: 8 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 87 are of uncertain significance or have conflicting reports.
Which uncertain variants in Cerebral cavernous malformation look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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