R7M (p.Arg7Met) variant of CACNA1C (Q13936)
R7M (p.Arg7Met) in CACNA1C (Q13936) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
R7M (p.Arg7Met) variant details
- p.Arg7Met
- gnomAD 12-2053582-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- REVEL 0.48
- CADD 29.50
- PolyPhen-2 0.98
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available