R756H (p.Arg756His) variant of ATP1A3 (P13637)
R756H (p.Arg756His) in ATP1A3 (P13637) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of ATP1A3-related disorder; Developmental and epileptic encephalopathy 99; ATP1A3-a. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
R756H (p.Arg756His) variant details
- p.Arg756His
- rs606231435
- ClinGen CA346014
- ClinVar RCV000148315
- ClinVar RCV000489717
- Pathogenic/Likely pathogenic
- ATP1A3-related disorder; Developmental and epileptic encephalopathy 99; ATP1A3-a
- Missense
- Variant Prioritization Score for Impact Estimate 0.88
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.03
- CADD 29.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (ATP1A3-related disorder; Developmental and epileptic encephalopa)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: ATP1A3-Related Disorder. (PMID 20301294)
- Cited in: Monogenic Isolated Dystonia Overview. (PMID 20301334)