E12D (p.Glu12Asp) variant of CACNA1C (Q13936)
E12D (p.Glu12Asp) in CACNA1C (Q13936) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
E12D (p.Glu12Asp) variant details
- p.Glu12Asp
- gnomAD 12-2053598-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.33
- CADD 23.80
- PolyPhen-2 0.95
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available