G51D (p.Gly51Asp) variant of DDX3X (ATP-dependent RNA helicase DDX3X)
G51D (p.Gly51Asp) 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.
G51D (p.Gly51Asp) variant details
- p.Gly51Asp
- rs1263310293
- ClinGen CA412764630
- ClinVar RCV002469511
- gnomAD rs1263310293
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.49
- CADD 23.90
- PolyPhen-2 0.06
- SIFT 0.10
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 5.8e-05)
- Structural context available