A7P (p.Ala7Pro) variant of CACNA1E (Q15878)
A7P (p.Ala7Pro) in CACNA1E (Q15878) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
A7P (p.Ala7Pro) variant details
- p.Ala7Pro
- gnomAD 1-181483763-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- REVEL 0.43
- CADD 25.20
- PolyPhen-2 0.29
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available