S35L (p.Ser35Leu) variant of CACNA1D (Q01668)
S35L (p.Ser35Leu) 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.
S35L (p.Ser35Leu) variant details
- p.Ser35Leu
- gnomAD 3-53329325-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.746
- CADD 23.40
- Population evidence available
- Structural context available
- Literature evidence available