R548H (p.Arg548His) variant of ATP1A2 (P50993)
R548H (p.Arg548His) in ATP1A2 (P50993) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Developmental and epileptic encephalopathy 98; ATP1A2-related disorder; Familial. 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.
R548H (p.Arg548His) variant details
- p.Arg548His
- rs121918616
- ClinGen CA122785
- ClinVar RCV000013789
- ClinVar RCV000423537
- Pathogenic
- Developmental and epileptic encephalopathy 98; ATP1A2-related disorder; Familial
- Missense
- Variant Prioritization Score for Impact Estimate 0.893
- REVEL 0.94
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Pathogenic (Developmental and epileptic encephalopathy 98; ATP1A2-related di)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: Familial basilar migraine associated with a new mutation in the ATP1A2 gene. (PMID 16344534)
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)