P40L (p.Pro40Leu) variant of DDX3X (ATP-dependent RNA helicase DDX3X)
P40L (p.Pro40Leu) in DDX3X (ATP-dependent RNA helicase DDX3X) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Intellectual disability, X-linked 102. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
P40L (p.Pro40Leu) variant details
- p.Pro40Leu
- rs1064793858
- ClinGen CA412762939
- ClinVar RCV002464988
- Conflicting interpretations
- not provided; Intellectual disability, X-linked 102
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- REVEL 0.51
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.46
- MetaSVM 0.06
- CADD 24.10
- ClinVar: Conflicting classifications of pathogenicity (not provided; Intellectual disability, X-linked 102)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: DDX3X-Related Neurodevelopmental Disorder. (PMID 32852922)