G34C (p.Gly34Cys) variant of CACNA1E (Q15878)
G34C (p.Gly34Cys) in CACNA1E (Q15878) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
G34C (p.Gly34Cys) variant details
- p.Gly34Cys
- gnomAD 1-181413240-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- CADD 22.80
- Population evidence available
- Structural context available
- Literature evidence available