E1263K (p.Glu1263Lys) variant of CACNA1A (O00555)
E1263K (p.Glu1263Lys) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Developmental and epileptic encephalopathy, 42; Episodic ataxia type 2; CACNA1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
E1263K (p.Glu1263Lys) variant details
- p.Glu1263Lys
- rs1555751762
- ClinGen CA404340598
- cosmic curated COSV10080
- ClinVar RCV000653321
- Pathogenic/Likely pathogenic
- Developmental and epileptic encephalopathy, 42; Episodic ataxia type 2; CACNA1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.891
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.10
- SIFT 0.00
- EVE 0.74
- MutPred 0.62
- ClinVar: Pathogenic/Likely pathogenic (Developmental and epileptic encephalopathy, 42; Episodic ataxia)
- 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)