D714E (p.Asp714Glu) variant of CACNA1A (O00555)
D714E (p.Asp714Glu) in CACNA1A (O00555) is a missense change. The available record places it in the context of Familial hemiplegic migraine; Migraine, familial hemiplegic, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
D714E (p.Asp714Glu) variant details
- p.Asp714Glu
- rs121908218
- ClinGen CA254440
- ClinVar RCV000009020
- TOPMed rs121908218
- not provided
- Familial hemiplegic migraine; Migraine, familial hemiplegic, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- AlphaMissense 0.99
- MetaLR 0.91
- MetaSVM 0.97
- SIFT 0.00
- MutPred 0.43
- ClinVar: not provided (Familial hemiplegic migraine; Migraine, familial hemiplegic, 1)
- EBI: Pathogenic (in FHM1)
- UniProt: Pathogenic (in FHM1)
- Structural context available
- Cited in: Exocytotic Ca2+ channels in mammalian central neurons. (PMID 7537420)
- Cited in: The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel. (PMID 11439943)