G1754R (p.Gly1754Arg) variant of CACNA1A (O00555)
G1754R (p.Gly1754Arg) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; Episodic ataxia type 2; Developmental and epileptic enc. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
G1754R (p.Gly1754Arg) variant details
- p.Gly1754Arg
- rs1555737113
- ClinGen CA404334921
- ClinVar RCV000547039
- ClinVar RCV000622365
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; Episodic ataxia type 2; Developmental and epileptic enc
- Missense
- Variant Prioritization Score for Impact Estimate 0.903
- REVEL 0.97
- CADD 29.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; Episodic ataxia type 2; Developmental a)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- 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)