Q42* (p.Gln42Ter) variant of CACNA1D (Q01668)
Q42* (p.Gln42Ter) in CACNA1D (Q01668) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
Q42* (p.Gln42Ter) variant details
- p.Gln42Ter
- gnomAD 3-53497208-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.854
- CADD 36.00
- Population evidence available
- Structural context available
- Literature evidence available