P40S (p.Pro40Ser) variant of DDX3X (ATP-dependent RNA helicase DDX3X)
P40S (p.Pro40Ser) in DDX3X (ATP-dependent RNA helicase DDX3X) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Intellectual disability, X-linked 102; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes published literature and structural context.
P40S (p.Pro40Ser) variant details
- p.Pro40Ser
- rs1602122138
- ClinGen CA412762929
- cosmic curated COSV10130
- ClinVar RCV000999403
- Likely pathogenic
- Intellectual disability, X-linked 102; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.591
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.43
- MetaSVM -0.06
- PolyPhen-2 0.01
- MutPred 0.51
- ClinVar: Likely pathogenic (Intellectual disability, X-linked 102; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: DDX3X-Related Neurodevelopmental Disorder. (PMID 32852922)