R383H (p.Arg383His) variant of ATP1A2 (P50993)
R383H (p.Arg383His) in ATP1A2 (P50993) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Familial hemiplegic migraine; not provided; Alternating hemiplegia of childhood. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
R383H (p.Arg383His) variant details
- p.Arg383His
- rs765909830
- ClinGen CA313277
- ClinVar RCV000186788
- ClinVar RCV002247600
- Pathogenic/Likely pathogenic
- Familial hemiplegic migraine; not provided; Alternating hemiplegia of childhood
- Missense
- Variant Prioritization Score for Impact Estimate 0.893
- REVEL 0.96
- AlphaMissense 0.82
- MetaLR 0.92
- MetaSVM 1.06
- CADD 32.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Familial hemiplegic migraine; not provided; Alternating hemipleg)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)