G47G (p.Gly47Gly) variant of CACNA1C (Q13936)
G47G (p.Gly47Gly) in CACNA1C (Q13936) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
G47G (p.Gly47Gly) variant details
- p.Gly47Gly
- rs1039269486
- gnomAD 12-1971200-A-G
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.588
- CADD 20.50
- Population evidence available
- Structural context available
- Literature evidence available