E46Q (p.Glu46Gln) variant of PRRT2 (Q7Z6L0)
E46Q (p.Glu46Gln) in PRRT2 (Q7Z6L0) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
E46Q (p.Glu46Gln) variant details
- p.Glu46Gln
- gnomAD rs1456787900
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.23
- CADD 23.80
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available