R28* (p.Arg28Ter) variant of CACNA1D (Q01668)
R28* (p.Arg28Ter) in CACNA1D (Q01668) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
R28* (p.Arg28Ter) variant details
- p.Arg28Ter
- rs1005365678
- gnomAD 3-53329381-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.665
- CADD 34.00
- Population evidence available
- Structural context available
- Literature evidence available