R1666W (p.Arg1666Trp) variant of CACNA1A (O00555)
R1666W (p.Arg1666Trp) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely 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 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
R1666W (p.Arg1666Trp) variant details
- p.Arg1666Trp
- rs121908220
- ClinGen CA266053
- ClinVar RCV000059303
- ClinVar RCV000991674
- Pathogenic/Likely pathogenic
- Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42; not prov
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- REVEL 0.89
- CADD 29.20
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Episodic ataxia type 2; Developmental and epileptic encephalopat)
- EBI: Pathogenic (in FHM1)
- UniProt: Pathogenic (in FHM1)
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available
- Cited in: The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel. (PMID 11439943)
- Cited in: EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood. (PMID 24418350)