S66R (p.Ser66Arg) variant of DDX41 (Q9UJV9)
S66R (p.Ser66Arg) in DDX41 (Q9UJV9) is a missense change. Clinical records from ClinVar, EBI, 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 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
S66R (p.Ser66Arg) variant details
- p.Ser66Arg
- rs1231474960
- ClinGen CA362377329
- ClinVar RCV001817570
- ClinVar RCV003464150
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.137
- REVEL 0.06
- CADD 18.10
- PolyPhen-2 0.01
- SIFT 0.35
- ClinVar: Likely benign (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: DDX41-Associated Familial Myelodysplastic Syndrome and Acute Myeloid Leukemia. (PMID 34723452)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)