G539R (p.Gly539Arg) variant of CACNA1A (O00555)
G539R (p.Gly539Arg) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of CACNA1A-related complex neurodevelopmental disorder; not provided; Episodic atax. 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.
G539R (p.Gly539Arg) variant details
- p.Gly539Arg
- rs2145030587
- ClinGen CA404345394
- cosmic curated COSV64194
- ClinVar RCV002008523
- Pathogenic/Likely pathogenic
- CACNA1A-related complex neurodevelopmental disorder; not provided; Episodic atax
- Missense
- Variant Prioritization Score for Impact Estimate 0.901
- REVEL 0.98
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (CACNA1A-related complex neurodevelopmental disorder; not provide)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-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)