P12Q (p.Pro12Gln) variant of CACNA1E (Q15878)
P12Q (p.Pro12Gln) in CACNA1E (Q15878) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
P12Q (p.Pro12Gln) variant details
- p.Pro12Gln
- gnomAD 1-181413175-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- CADD 24.20
- Population evidence available
- Structural context available
- Literature evidence available