G402S (p.Gly402Ser) variant of CACNA1C (Q13936)
G402S (p.Gly402Ser) in CACNA1C (Q13936) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Long QT syndrome 8; not provided; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and published literature.
G402S (p.Gly402Ser) variant details
- p.Gly402Ser
- UniProt VAR 026741
- Pathogenic
- Long QT syndrome 8; not provided; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.732
- CADD 22.50
- ClinVar: Pathogenic (Long QT syndrome 8; not provided; Cardiovascular phenotype)
- EBI: Pathogenic (in TS)
- UniProt: Pathogenic (in TS)
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Cited in: Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations. (PMID 15863612)
- Cited in: Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. (PMID 15454078)