G30V (p.Gly30Val) variant of DDX3X (ATP-dependent RNA helicase DDX3X)
G30V (p.Gly30Val) 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 0.44 / 1. The record also includes population frequency data and structural context.
G30V (p.Gly30Val) variant details
- p.Gly30Val
- rs2147340549
- ClinGen CA412762545
- ClinVar RCV002032309
- Ensembl rs2147340549
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.35
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 32.00
- PolyPhen-2 0.11
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.4e-06)
- Structural context available