P12A (p.Pro12Ala) variant of CACNA1E (Q15878)
P12A (p.Pro12Ala) in CACNA1E (Q15878) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
P12A (p.Pro12Ala) variant details
- p.Pro12Ala
- rs1657993059
- gnomAD 1-181413189-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.62
- CADD 22.20
- Population evidence available
- Structural context available
- Literature evidence available