V191M (p.Val191Met) variant of ATP1A2 (P50993)
V191M (p.Val191Met) in ATP1A2 (P50993) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Migraine, familial hemiplegic, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
V191M (p.Val191Met) variant details
- p.Val191Met
- rs869025341
- ClinGen CA351655
- ClinVar RCV000207519
- Ensembl rs869025341
- Pathogenic
- Migraine, familial hemiplegic, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.83
- REVEL 0.89
- CADD 24.60
- PolyPhen-2 0.91
- SIFT 0.08
- ClinVar: Pathogenic (Migraine, familial hemiplegic, 2)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: A missense variant of the ATP1A2 gene is associated with a novel phenotype of progressive sensorineural hearing loss… (PMID 25138102)
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)