E12G (p.Glu12Gly) variant of CACNA1C (Q13936)
E12G (p.Glu12Gly) in CACNA1C (Q13936) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
E12G (p.Glu12Gly) variant details
- p.Glu12Gly
- rs751212715
- gnomAD 12-2053597-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- REVEL 0.45
- CADD 31.00
- PolyPhen-2 0.97
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available