P40R (p.Pro40Arg) variant of DDX3X (ATP-dependent RNA helicase DDX3X)
P40R (p.Pro40Arg) in DDX3X (ATP-dependent RNA helicase DDX3X) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Neurodevelopmental delay. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes structural context.
P40R (p.Pro40Arg) variant details
- p.Pro40Arg
- rs1064793858
- ClinGen CA16621377
- ClinVar RCV000478349
- ClinVar RCV002274037
- Pathogenic
- not provided; Neurodevelopmental delay
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.46
- MetaSVM 0.06
- PolyPhen-2 0.42
- MutPred 0.59
- ClinVar: Pathogenic (not provided; Neurodevelopmental delay)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available