D801H (p.Asp801His) variant of ATP1A3 (P13637)
D801H (p.Asp801His) in ATP1A3 (P13637) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Alternating hemiplegia of childhood 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes published literature and structural context.
D801H (p.Asp801His) variant details
- p.Asp801His
- rs80356537
- ClinGen CA207845
- ClinVar RCV000193987
- Ensembl rs80356537
- Likely pathogenic
- Alternating hemiplegia of childhood 2
- 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: Likely pathogenic (Alternating hemiplegia of childhood 2)
- EBI: Pathogenic (in DYT12)
- UniProt: Pathogenic (in DYT12)
- Structural context available
- Cited in: ATP1A3-Related Disorder. (PMID 20301294)