D801N (p.Asp801Asn) variant of ATP1A3 (P13637)
D801N (p.Asp801Asn) in ATP1A3 (P13637) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Developmental and epileptic encephalopathy 99; Alternating hemiplegia of childho. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes published literature and structural context.
D801N (p.Asp801Asn) variant details
- p.Asp801Asn
- rs80356537
- ClinGen CA342902
- cosmic curated COSV57489
- ClinVar RCV000030749
- Pathogenic
- Developmental and epileptic encephalopathy 99; Alternating hemiplegia of childho
- Missense
- Variant Prioritization Score for Impact Estimate 0.822
- AlphaMissense 0.99
- MetaLR 0.91
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.51
- ClinVar: Pathogenic (Developmental and epileptic encephalopathy 99; Alternating hemip)
- EBI: Pathogenic (in AHC2 and DEE99)
- UniProt: Pathogenic (in AHC2 and DEE99)
- Structural context available
- Cited in: De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. (PMID 22842232)
- Cited in: Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing… (PMID 22850527)