R7K (p.Arg7Lys) variant of CACNA1C (Q13936)
R7K (p.Arg7Lys) in CACNA1C (Q13936) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
R7K (p.Arg7Lys) variant details
- p.Arg7Lys
- rs766075498
- gnomAD 12-2053582-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.32
- CADD 22.70
- PolyPhen-2 0.87
- SIFT 0.45
- Population evidence available
- Structural context available
- Literature evidence available