D808E (p.Asp808Glu) variant of ATP1A2 (P50993)
D808E (p.Asp808Glu) 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 0.51 / 1. The record also includes published literature and structural context.
D808E (p.Asp808Glu) variant details
- p.Asp808Glu
- rs1570994712
- ClinGen CA343250880
- ClinVar RCV002904955
- ClinGen CA343250882
- Uncertain significance
- Familial hemiplegic migraine
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- AlphaMissense 1.00
- MetaLR 0.42
- MetaSVM -0.05
- PolyPhen-2 0.95
- SIFT 0.11
- EVE 0.55
- ClinVar: Uncertain significance (Familial hemiplegic migraine)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)