A10P (p.Ala10Pro) variant of CACNA1E (Q15878)
A10P (p.Ala10Pro) in CACNA1E (Q15878) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
A10P (p.Ala10Pro) variant details
- p.Ala10Pro
- gnomAD 1-181413197-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.377
- CADD 19.30
- Population evidence available
- Structural context available
- Literature evidence available