R53G (p.Arg53Gly) variant of DDX41 (Q9UJV9)
R53G (p.Arg53Gly) in DDX41 (Q9UJV9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. 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.
R53G (p.Arg53Gly) variant details
- p.Arg53Gly
- rs745421135
- ClinGen CA3585313
- ClinVar RCV001820524
- ExAC rs745421135
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.03
- CADD 23.70
- PolyPhen-2 0.00
- SIFT 0.30
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available