G5V (p.Gly5Val) variant of CACNA1E (Q15878)
G5V (p.Gly5Val) in CACNA1E (Q15878) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
G5V (p.Gly5Val) variant details
- p.Gly5Val
- gnomAD 1-181413166-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.748
- CADD 25.30
- Population evidence available
- Structural context available
- Literature evidence available