A712T (p.Ala712Thr) variant of CACNA1A (O00555)
A712T (p.Ala712Thr) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 52. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
A712T (p.Ala712Thr) variant details
- p.Ala712Thr
- rs886037945
- ClinGen CA10586394
- cosmic curated COSV64197
- ClinVar RCV000240888
- Pathogenic/Likely pathogenic
- Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 52
- Missense
- Variant Prioritization Score for Impact Estimate 0.874
- AlphaMissense 0.90
- MetaLR 0.96
- MetaSVM 1.10
- SIFT 0.00
- MutPred 0.46
- ClinVar: Pathogenic/Likely pathogenic (Migraine, familial hemiplegic, 1; Developmental and epileptic en)
- EBI: Pathogenic (in DEE42)
- UniProt: Pathogenic (in DEE42)
- Structural context available
- Cited in: De novo mutations in epileptic encephalopathies. (PMID 23934111)
- Cited in: De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. (PMID 27476654)