G13R (p.Gly13Arg) variant of CACNA1A (O00555)
G13R (p.Gly13Arg) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
G13R (p.Gly13Arg) variant details
- p.Gly13Arg
- rs1202097056
- ClinGen CA404971330
- ClinVar RCV003149297
- ClinGen CA404971331
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.702
- REVEL 0.62
- MetaLR 0.94
- MetaSVM 0.83
- CADD 27.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 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)