R3C (p.Arg3Cys) variant of CACNA1A (O00555)
R3C (p.Arg3Cys) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
R3C (p.Arg3Cys) variant details
- p.Arg3Cys
- rs1326606155
- ClinGen CA404971397
- ClinVar RCV001886924
- ClinVar RCV006272465
- Uncertain significance
- not provided; Episodic ataxia type 2; Developmental and epileptic encephalopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.769
- REVEL 0.73
- AlphaMissense 0.80
- MetaLR 0.95
- MetaSVM 1.02
- CADD 32.00
- PolyPhen-2 0.99
- ClinVar: Uncertain significance (not provided; Episodic ataxia type 2; Developmental and epilepti)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0011)
- 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)