V713A (p.Val713Ala) variant of CACNA1A (O00555)
V713A (p.Val713Ala) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Migraine, familial hemiplegic, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
V713A (p.Val713Ala) variant details
- p.Val713Ala
- rs121908213
- ClinGen CA254418
- ClinVar RCV000009011
- ClinVar RCV001533160
- Pathogenic
- Migraine, familial hemiplegic, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.87
- AlphaMissense 0.96
- MetaLR 0.92
- MetaSVM 1.11
- SIFT 0.00
- MutPred 0.51
- ClinVar: Pathogenic (Migraine, familial hemiplegic, 1)
- EBI: Pathogenic (in FHM1)
- UniProt: Pathogenic (in FHM1)
- Structural context available
- Cited in: Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. (PMID 8898206)
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)