D220N (p.Asp220Asn) variant of ATP1A3 (P13637)
D220N (p.Asp220Asn) in ATP1A3 (P13637) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Dystonia 12. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
D220N (p.Asp220Asn) variant details
- p.Asp220Asn
- rs1396898460
- ClinGen CA406054091
- ClinVar RCV001210834
- ClinVar RCV001549522
- Uncertain significance
- not provided; Dystonia 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- CADD 22.30
- PolyPhen-2 0.35
- SIFT 0.12
- ClinVar: Uncertain significance (not provided; Dystonia 12)
- EBI: Pathogenic (in AHC2)
- UniProt: Pathogenic (in AHC2)
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. (PMID 22842232)
- Cited in: Alternating Hemiplegia of Childhood mutations have a differential effect on Na(+),K(+)-ATPase activity and ouabain… (PMID 24631656)