p.Ile8 Glu10del variant of PRRT2 (Q7Z6L0)
p.Ile8 Glu10del in PRRT2 (Q7Z6L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
p.Ile8 Glu10del variant details
- gnomAD 16-29813068-GCTCT
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.327
- CADD 15.60
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available