D812H (p.Asp812His) variant of ATP1A2 (P50993)
D812H (p.Asp812His) in ATP1A2 (P50993) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Familial hemiplegic migraine. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes published literature and structural context.
D812H (p.Asp812His) variant details
- p.Asp812His
- rs1558008759
- ClinGen CA343250923
- ClinVar RCV000693628
- Ensembl rs1558008759
- Pathogenic
- Familial hemiplegic migraine
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- AlphaMissense 1.00
- MetaLR 0.69
- MetaSVM 0.73
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.75
- ClinVar: Pathogenic (Familial hemiplegic migraine)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)