M50T (p.Met50Thr) variant of CACNA1E (Q15878)
M50T (p.Met50Thr) in CACNA1E (Q15878) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
M50T (p.Met50Thr) variant details
- p.Met50Thr
- gnomAD 1-181413340-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- CADD 17.70
- Population evidence available
- Structural context available
- Literature evidence available