E122V (p.Glu122Val) variant of DDX41 (Q9UJV9)
E122V (p.Glu122Val) in DDX41 (Q9UJV9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
E122V (p.Glu122Val) variant details
- p.Glu122Val
- ExAC rs772916947
- gnomAD rs772916947
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.35
- CADD 25.30
- PolyPhen-2 0.23
- SIFT 0.03
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available