S83F (p.Ser83Phe) variant of DDX41 (Q9UJV9)
S83F (p.Ser83Phe) in DDX41 (Q9UJV9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
S83F (p.Ser83Phe) variant details
- p.Ser83Phe
- rs771776006
- ClinGen CA3585297
- cosmic curated COSV10028
- ClinVar RCV003841133
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.22
- CADD 24.00
- PolyPhen-2 0.01
- SIFT 0.07
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)