E147K (p.Glu147Lys) variant of CACNA1A (O00555)
E147K (p.Glu147Lys) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42; not prov. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
E147K (p.Glu147Lys) variant details
- p.Glu147Lys
- rs1568659847
- ClinGen CA404967630
- ClinVar RCV000710961
- ClinVar RCV001390633
- Pathogenic
- Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42; not prov
- Missense
- Variant Prioritization Score for Impact Estimate 0.913
- REVEL 0.97
- MetaLR 0.98
- MetaSVM 1.02
- CADD 29.00
- PolyPhen-2 0.71
- SIFT 0.02
- ClinVar: Pathogenic (Episodic ataxia type 2; Developmental and epileptic encephalopat)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- 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)