G21E (p.Gly21Glu) variant of CACNA1C (Q13936)
G21E (p.Gly21Glu) in CACNA1C (Q13936) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
G21E (p.Gly21Glu) variant details
- p.Gly21Glu
- rs868443106
- gnomAD 12-2115236-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.583
- REVEL 0.48
- CADD 22.90
- PolyPhen-2 0.11
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available