E12K (p.Glu12Lys) variant of CACNA1C (Q13936)
E12K (p.Glu12Lys) in CACNA1C (Q13936) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
E12K (p.Glu12Lys) variant details
- p.Glu12Lys
- gnomAD 12-2053596-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- REVEL 0.51
- CADD 32.00
- PolyPhen-2 0.95
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available