P1352L (p.Pro1352Leu) variant of CACNA1A (O00555)
P1352L (p.Pro1352Leu) 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; Developmental and epileptic encephalopathy, 52. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
P1352L (p.Pro1352Leu) variant details
- p.Pro1352Leu
- rs1064794808
- ClinGen CA16620786
- ClinVar RCV000486354
- ClinVar RCV000679938
- Pathogenic
- Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 52
- Missense
- Variant Prioritization Score for Impact Estimate 0.88
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.09
- SIFT 0.00
- EVE 0.70
- MutPred 0.64
- ClinVar: Pathogenic (Migraine, familial hemiplegic, 1; Developmental and epileptic en)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. (PMID 20050888)
- Cited in: Hereditary Ataxia Overview. (PMID 20301317)