E6E (p.Glu6Glu) variant of CACNA1E (Q15878)
E6E (p.Glu6Glu) in CACNA1E (Q15878) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
E6E (p.Glu6Glu) variant details
- p.Glu6Glu
- rs1657993669
- gnomAD 1-181413194-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.319
- CADD 8.94
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Literature evidence available