G11R (p.Gly11Arg) variant of DDX3X (ATP-dependent RNA helicase DDX3X)
G11R (p.Gly11Arg) 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 0.29 / 1. The record also includes population frequency data and structural context.
G11R (p.Gly11Arg) variant details
- p.Gly11Arg
- rs2519481159
- ClinGen CA412761545
- ClinVar RCV002461742
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.64
- CADD 24.70
- PolyPhen-2 0.29
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available