D13G (p.Asp13Gly) variant of DDX3X (ATP-dependent RNA helicase DDX3X)
D13G (p.Asp13Gly) 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 0.47 / 1. The record also includes structural context.
D13G (p.Asp13Gly) variant details
- p.Asp13Gly
- rs2147332843
- ClinGen CA412761574
- ClinVar RCV001912281
- Ensembl rs2147332843
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- ESM-1b 1.00
- AlphaMissense 0.72
- MetaLR 0.06
- MetaSVM -1.11
- PolyPhen-2 0.00
- SIFT 0.17
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available