M94V (p.Met94Val) variant of KRIT1 (O00522)
M94V (p.Met94Val) in KRIT1 (O00522) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cerebral cavernous malformation. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
M94V (p.Met94Val) variant details
- p.Met94Val
- rs2536059238
- ClinVar RCV004560385
- Uncertain significance
- Cerebral cavernous malformation
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.18
- CADD 22.90
- PolyPhen-2 0.45
- SIFT 0.37
- ClinVar: Uncertain significance (Cerebral cavernous malformation)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)