R8Q (p.Arg8Gln) variant of DDX41 (Q9UJV9)
R8Q (p.Arg8Gln) 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 record also includes variant effect predictions and structural context.
R8Q (p.Arg8Gln) variant details
- p.Arg8Gln
- cosmic curated COSV10520
- TOPMed rs1761268384
- Likely benign
- Inborn genetic diseases
- Missense
- MetaLR 0.12
- MetaSVM -0.99
- SIFT 0.29
- ClinVar: Likely benign (Inborn genetic diseases)
- UniProt: Likely benign
- Structural context available