L52L (p.Leu52Leu) variant of CACNA1E (Q15878)
L52L (p.Leu52Leu) in CACNA1E (Q15878) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
L52L (p.Leu52Leu) variant details
- p.Leu52Leu
- gnomAD 1-181413168-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.419
- CADD 9.37
- Population evidence available
- Structural context available
- Literature evidence available