A7V (p.Ala7Val) variant of CACNA1E (Q15878)
A7V (p.Ala7Val) in CACNA1E (Q15878) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
A7V (p.Ala7Val) variant details
- p.Ala7Val
- gnomAD 1-181483764-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- REVEL 0.39
- CADD 23.90
- PolyPhen-2 0.24
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available