R756C (p.Arg756Cys) variant of ATP1A3 (P13637)
R756C (p.Arg756Cys) in ATP1A3 (P13637) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Alternating hemiplegia of childhood 2; Autosomal dominant ATP1A3-related disorde. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
R756C (p.Arg756Cys) variant details
- p.Arg756Cys
- rs1064797245
- ClinGen CA16621741
- cosmic curated COSV10587
- ClinVar RCV000488196
- Pathogenic/Likely pathogenic
- Alternating hemiplegia of childhood 2; Autosomal dominant ATP1A3-related disorde
- Missense
- Variant Prioritization Score for Impact Estimate 0.969
- AlphaMissense 0.99
- MetaLR 0.97
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.94
- ClinVar: Pathogenic/Likely pathogenic (Alternating hemiplegia of childhood 2; Autosomal dominant ATP1A3)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: ATP1A3-Related Disorder. (PMID 20301294)
- Cited in: Monogenic Isolated Dystonia Overview. (PMID 20301334)