Y33F (p.Tyr33Phe) variant of DDX41 (Q9UJV9)
Y33F (p.Tyr33Phe) in DDX41 (Q9UJV9) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
Y33F (p.Tyr33Phe) variant details
- p.Tyr33Phe
- ExAC rs762082953
- TOPMed rs762082953
- gnomAD rs762082953
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.13
- CADD 22.50
- PolyPhen-2 0.03
- SIFT 0.09
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available