R1660H (p.Arg1660His) variant of CACNA1A (O00555)
R1660H (p.Arg1660His) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Autosomal dominant CACNA1A-related disorders; Developmental and epileptic enceph. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
R1660H (p.Arg1660His) variant details
- p.Arg1660His
- rs121908216
- ClinGen CA254430
- ClinVar RCV000009017
- ClinVar RCV000517293
- Pathogenic/Likely pathogenic
- Autosomal dominant CACNA1A-related disorders; Developmental and epileptic enceph
- Missense
- Variant Prioritization Score for Impact Estimate 0.861
- REVEL 0.91
- CADD 27.90
- PolyPhen-2 0.98
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Autosomal dominant CACNA1A-related disorders; Developmental and)
- EBI: Pathogenic (in EA2)
- UniProt: Pathogenic (in EA2)
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Cited in: Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA-2 and… (PMID 10987655)
- Cited in: A novel nonsense mutation in CACNA1A causes episodic ataxia and hemiplegia. (PMID 10408533)