A39V (p.Ala39Val) variant of CACNA1C (Q13936)
A39V (p.Ala39Val) in CACNA1C (Q13936) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Brugada syndrome 3. 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.
A39V (p.Ala39Val) variant details
- p.Ala39Val
- UniProt VAR 044039
- Pathogenic
- Brugada syndrome 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.7
- REVEL 0.72
- CADD 25.40
- PolyPhen-2 0.99
- SIFT 0.02
- ClinVar: Pathogenic (Brugada syndrome 3)
- EBI: Variant of uncertain significance (in BRGDA3)
- UniProt: Uncertain significance (in BRGDA3)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- 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)