R1678C (p.Arg1678Cys) variant of CACNA1A (O00555)
R1678C (p.Arg1678Cys) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
R1678C (p.Arg1678Cys) variant details
- p.Arg1678Cys
- rs121908243
- ClinGen CA266056
- ClinVar RCV000059304
- ClinVar RCV001212963
- Conflicting interpretations
- Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42; not prov
- Missense
- Variant Prioritization Score for Impact Estimate 0.876
- REVEL 0.96
- AlphaMissense 0.98
- MetaLR 0.99
- MetaSVM 1.00
- CADD 32.00
- PolyPhen-2 0.99
- ClinVar: Conflicting classifications of pathogenicity (Episodic ataxia type 2; Developmental and epileptic encephalopat)
- EBI: Pathogenic (in EA2)
- UniProt: Pathogenic (in EA2)
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available
- Cited in: Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2. (PMID 20129625)
- Cited in: A novel nonsense mutation in CACNA1A causes episodic ataxia and hemiplegia. (PMID 10408533)