E6G (p.Glu6Gly) variant of CACNA1E (Q15878)
E6G (p.Glu6Gly) in CACNA1E (Q15878) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
E6G (p.Glu6Gly) variant details
- p.Glu6Gly
- gnomAD 1-181413157-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- CADD 23.40
- Population evidence available
- Structural context available
- Literature evidence available