Y33C (p.Tyr33Cys) variant of DDX41 (Q9UJV9)
Y33C (p.Tyr33Cys) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
Y33C (p.Tyr33Cys) variant details
- p.Tyr33Cys
- ExAC rs762082953
- TOPMed rs762082953
- gnomAD rs762082953
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.27
- CADD 28.00
- PolyPhen-2 0.93
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available