G27R (p.Gly27Arg) variant of CACNA1E (Q15878)
G27R (p.Gly27Arg) in CACNA1E (Q15878) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
G27R (p.Gly27Arg) variant details
- p.Gly27Arg
- rs965834191
- gnomAD 1-181413216-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- CADD 23.10
- Most common in the 1KG:ESN population (allele frequency 0.0049)
- Structural context available
- Literature evidence available