E46E (p.Glu46Glu) variant of PRRT2 (Q7Z6L0)
E46E (p.Glu46Glu) in PRRT2 (Q7Z6L0) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
E46E (p.Glu46Glu) variant details
- p.Glu46Glu
- rs1291344054
- gnomAD 16-29813192-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.266
- CADD 7.54
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available