R7T (p.Arg7Thr) variant of CACNA1C (Q13936)
R7T (p.Arg7Thr) in CACNA1C (Q13936) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
R7T (p.Arg7Thr) variant details
- p.Arg7Thr
- rs766075498
- gnomAD 12-2053582-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- REVEL 0.51
- CADD 23.10
- Population evidence available
- Structural context available
- Literature evidence available