E6K (p.Glu6Lys) variant of CACNA1E (Q15878)
E6K (p.Glu6Lys) in CACNA1E (Q15878) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
E6K (p.Glu6Lys) variant details
- p.Glu6Lys
- rs1484737332
- gnomAD 1-181413156-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- CADD 23.20
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Literature evidence available