R7Q (p.Arg7Gln) variant of CACNA1C (Q13936)
R7Q (p.Arg7Gln) in CACNA1C (Q13936) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
R7Q (p.Arg7Gln) variant details
- p.Arg7Gln
- rs759324264
- gnomAD 12-1971070-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- CADD 19.60
- Population evidence available
- Structural context available
- Literature evidence available