A51T (p.Ala51Thr) variant of CACNA1E (Q15878)
A51T (p.Ala51Thr) in CACNA1E (Q15878) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
A51T (p.Ala51Thr) variant details
- p.Ala51Thr
- rs539853027
- gnomAD 1-181413303-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.623
- CADD 16.70
- Most common in the 1KG:GBR population (allele frequency 0.0057)
- Structural context available
- Literature evidence available