M50I (p.Met50Ile) variant of CACNA1E (Q15878)
M50I (p.Met50Ile) in CACNA1E (Q15878) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
M50I (p.Met50Ile) variant details
- p.Met50Ile
- gnomAD rs1663536362
- Missense
- Variant Prioritization Score for Impact Estimate 0.832
- REVEL 0.87
- CADD 27.30
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available