Q27P (p.Gln27Pro) variant of DDX3X (ATP-dependent RNA helicase DDX3X)
Q27P (p.Gln27Pro) 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 structural context.
Q27P (p.Gln27Pro) variant details
- p.Gln27Pro
- rs2147340525
- ClinGen CA412762495
- ClinVar RCV001773823
- Ensembl rs2147340525
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.19
- MetaSVM -0.88
- PolyPhen-2 0.94
- SIFT 0.32
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available