E13K (p.Glu13Lys) variant of CACNA1C (Q13936)
E13K (p.Glu13Lys) in CACNA1C (Q13936) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
E13K (p.Glu13Lys) variant details
- p.Glu13Lys
- rs754656999
- gnomAD 12-2053599-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- REVEL 0.47
- CADD 25.70
- PolyPhen-2 0.95
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available