G490R (p.Gly490Arg) variant of CACNA1C (Q13936)
G490R (p.Gly490Arg) in CACNA1C (Q13936) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and published literature.
G490R (p.Gly490Arg) variant details
- p.Gly490Arg
- UniProt VAR 044040
- Conflicting interpretations
- Cardiovascular phenotype; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- REVEL 0.69
- CADD 24.90
- PolyPhen-2 0.80
- SIFT 0.30
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not specified; not provided)
- EBI: Variant of uncertain significance (in BRGDA3)
- UniProt: Uncertain significance (in BRGDA3)
- Most common in the Ashkenazi Jewish population (allele frequency 0.011)
- Cited in: Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment… (PMID 17224476)
- Cited in: Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death. (PMID 20817017)