R28Q (p.Arg28Gln) variant of CACNA1D (Q01668)
R28Q (p.Arg28Gln) in CACNA1D (Q01668) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
R28Q (p.Arg28Gln) variant details
- p.Arg28Gln
- rs1198199889
- gnomAD 3-53329382-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- CADD 20.40
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available