R68Q (p.Arg68Gln) variant of CACNA1A (O00555)
R68Q (p.Arg68Gln) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Developmental and epileptic encephalopathy, 42; Episodic ataxia type 2; not prov. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
R68Q (p.Arg68Gln) variant details
- p.Arg68Gln
- rs576099495
- ClinGen CA9241087
- cosmic curated COSV64197
- ClinVar RCV001312855
- Conflicting interpretations
- Developmental and epileptic encephalopathy, 42; Episodic ataxia type 2; not prov
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.12
- AlphaMissense 0.84
- MetaLR 0.12
- MetaSVM -0.82
- CADD 24.70
- PolyPhen-2 0.90
- ClinVar: Conflicting classifications of pathogenicity (Developmental and epileptic encephalopathy, 42; Episodic ataxia)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:IBS population (allele frequency 0.017)
- 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)