E2G (p.Glu2Gly) variant of DDX41 (Q9UJV9)
E2G (p.Glu2Gly) in DDX41 (Q9UJV9) 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 0.43 / 1. The record also includes population frequency data and structural context.
E2G (p.Glu2Gly) variant details
- p.Glu2Gly
- gnomAD rs1399847240
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- CADD 32.00
- PolyPhen-2 0.01
- SIFT 0.27
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available