I142T (p.Ile142Thr) variant of DDX41 (Q9UJV9)
I142T (p.Ile142Thr) 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 0.42 / 1. The record also includes population frequency data and structural context.
I142T (p.Ile142Thr) variant details
- p.Ile142Thr
- gnomAD rs1316889386
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.27
- CADD 24.60
- PolyPhen-2 0.32
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available