S21G (p.Ser21Gly) variant of DDX41 (Q9UJV9)
S21G (p.Ser21Gly) in DDX41 (Q9UJV9) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
S21G (p.Ser21Gly) variant details
- p.Ser21Gly
- TOPMed rs1689892904
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.05
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.51
- ClinVar: Likely benign (Inborn genetic diseases)
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.3e-05)
- Structural context available