R1660C (p.Arg1660Cys) variant of CACNA1A (O00555)
R1660C (p.Arg1660Cys) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Episodic ataxia type 2; Developmental and epileptic encephalopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
R1660C (p.Arg1660Cys) variant details
- p.Arg1660Cys
- rs779576853
- ClinGen CA9239858
- cosmic curated COSV64216
- ClinVar RCV001763278
- Likely pathogenic
- not provided; Episodic ataxia type 2; Developmental and epileptic encephalopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.846
- REVEL 0.86
- CADD 32.00
- PolyPhen-2 0.98
- SIFT 0.01
- ClinVar: Likely pathogenic (not provided; Episodic ataxia type 2; Developmental and epilepti)
- EBI: Likely pathogenic (in EA2)
- UniProt: Likely pathogenic (in EA2)
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- 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)