R28L (p.Arg28Leu) variant of CACNA1D (Q01668)
R28L (p.Arg28Leu) in CACNA1D (Q01668) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
R28L (p.Arg28Leu) variant details
- p.Arg28Leu
- gnomAD 3-53329382-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- CADD 22.60
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available