R101C (p.Arg101Cys) variant of DDX41 (Q9UJV9)
R101C (p.Arg101Cys) 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; not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
R101C (p.Arg101Cys) variant details
- p.Arg101Cys
- rs1761223083
- ClinGen CA362376938
- NCI-TCGA Cosmic COSV1002
- cosmic curated COSV10028
- Uncertain significance
- not specified; not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.17
- CADD 32.00
- PolyPhen-2 0.53
- SIFT 0.05
- ClinVar: Uncertain significance (not specified; not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available