p.Glu19 Gly25del variant of CACNA1B (Q00975)
p.Glu19 Gly25del in CACNA1B (Q00975) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
p.Glu19 Gly25del variant details
- gnomAD 9-137877978-CGGCG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.605
- CADD 19.90
- Most common in the East Asian population (allele frequency 0.00021)
- Structural context available
- Literature evidence available