G406R (p.Gly406Arg) variant of CACNA1C (Q13936)
G406R (p.Gly406Arg) in CACNA1C (Q13936) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Timothy syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and published literature.
G406R (p.Gly406Arg) variant details
- p.Gly406Arg
- UniProt VAR 026742
- Pathogenic
- not provided; Timothy syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.759
- CADD 24.80
- ClinVar: Pathogenic (not provided; Timothy syndrome)
- EBI: Pathogenic (in TS)
- UniProt: Pathogenic (in TS)
- Population evidence available
- Cited in: Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. (PMID 15454078)
- Cited in: Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations. (PMID 15863612)