E4G (p.Glu4Gly) variant of CACNA1C (Q13936)
E4G (p.Glu4Gly) in CACNA1C (Q13936) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
E4G (p.Glu4Gly) variant details
- p.Glu4Gly
- gnomAD 12-2053573-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- REVEL 0.45
- CADD 25.00
- PolyPhen-2 0.97
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available