R1351Q (p.Arg1351Gln) variant of CACNA1A (O00555)
R1351Q (p.Arg1351Gln) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Developmental and epileptic encephalopathy, 42; Episodic ataxia type 2; Developm. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
R1351Q (p.Arg1351Gln) variant details
- p.Arg1351Gln
- rs1555745467
- ClinGen CA404339986
- cosmic curated COSV10442
- ClinVar RCV001247687
- Pathogenic/Likely pathogenic
- Developmental and epileptic encephalopathy, 42; Episodic ataxia type 2; Developm
- Missense
- Variant Prioritization Score for Impact Estimate 0.924
- REVEL 0.98
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.97
- CADD 29.80
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Developmental and epileptic encephalopathy, 42; Episodic ataxia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- 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)