E667K (p.Glu667Lys) variant of CACNA1A (O00555)
E667K (p.Glu667Lys) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Developmental and epileptic encephalopathy, 42; Episodic ataxia type 2; not prov. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
E667K (p.Glu667Lys) variant details
- p.Glu667Lys
- rs2057842904
- ClinGen CA404344495
- cosmic curated COSV64204
- ClinVar RCV001268015
- Pathogenic
- Developmental and epileptic encephalopathy, 42; Episodic ataxia type 2; not prov
- Missense
- Variant Prioritization Score for Impact Estimate 0.934
- AlphaMissense 0.99
- MetaLR 0.96
- MetaSVM 1.10
- SIFT 0.00
- MutPred 0.75
- ClinVar: 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)