V50* (p.Val50Ter) variant of CACNA1D (Q01668)
V50* (p.Val50Ter) in CACNA1D (Q01668) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
V50* (p.Val50Ter) variant details
- p.Val50Ter
- gnomAD 3-53329391-GA-G
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.753
- CADD 24.50
- Population evidence available
- Structural context available
- Literature evidence available