E12V (p.Glu12Val) variant of CACNA1C (Q13936)
E12V (p.Glu12Val) in CACNA1C (Q13936) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
E12V (p.Glu12Val) variant details
- p.Glu12Val
- rs751212715
- gnomAD 12-2053597-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- REVEL 0.49
- CADD 32.00
- PolyPhen-2 0.98
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available