E4K (p.Glu4Lys) variant of CACNA1C (Q13936)
E4K (p.Glu4Lys) in CACNA1C (Q13936) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
E4K (p.Glu4Lys) variant details
- p.Glu4Lys
- gnomAD 12-2053572-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.561
- REVEL 0.50
- CADD 25.70
- PolyPhen-2 0.95
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available