P38Q (p.Pro38Gln) variant of DDX41 (Q9UJV9)
P38Q (p.Pro38Gln) 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 0.52 / 1. The record also includes population frequency data and structural context.
P38Q (p.Pro38Gln) variant details
- p.Pro38Gln
- ESP rs11555633
- ExAC rs11555633
- TOPMed rs11555633
- gnomAD rs11555633
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- REVEL 0.38
- CADD 28.30
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available