S57R (p.Ser57Arg) variant of DDX3X (ATP-dependent RNA helicase DDX3X)
S57R (p.Ser57Arg) in DDX3X (ATP-dependent RNA helicase DDX3X) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes structural context.
S57R (p.Ser57Arg) variant details
- p.Ser57Arg
- rs2519505296
- ClinGen CA412764724
- ClinVar RCV002834130
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- ESM-1b 0.00
- AlphaMissense 0.73
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available