D808H (p.Asp808His) variant of ATP1A2 (P50993)
D808H (p.Asp808His) in ATP1A2 (P50993) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial hemiplegic migraine. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes published literature and structural context.
D808H (p.Asp808His) variant details
- p.Asp808His
- rs1651923218
- ClinGen CA343250859
- ClinVar RCV001318953
- Ensembl rs1651923218
- Uncertain significance
- Familial hemiplegic migraine
- Missense
- Variant Prioritization Score for Impact Estimate 0.748
- AlphaMissense 1.00
- MetaLR 0.68
- MetaSVM 0.70
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.71
- ClinVar: Uncertain significance (Familial hemiplegic migraine)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)