R132Q (p.Arg132Gln) variant of CACNA1A (O00555)
R132Q (p.Arg132Gln) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Developmental and epileptic encephalopathy, 42; Episodic ataxia type 2. 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.
R132Q (p.Arg132Gln) variant details
- p.Arg132Gln
- rs764554276
- ClinGen CA9241051
- cosmic curated COSV64207
- ClinVar RCV002791719
- Uncertain significance
- Developmental and epileptic encephalopathy, 42; Episodic ataxia type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- REVEL 0.70
- MetaLR 0.93
- MetaSVM 1.07
- CADD 28.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 42; Episodic ataxia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00044)
- 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)