R475C (p.Arg475Cys) variant of DDX3X (ATP-dependent RNA helicase DDX3X)
R475C (p.Arg475Cys) in DDX3X (ATP-dependent RNA helicase DDX3X) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Intellectual disability, X-linked 102; X-linked intellectual disability-hypotoni. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes published literature and structural context.
R475C (p.Arg475Cys) variant details
- p.Arg475Cys
- rs1064794574
- ClinGen CA412775294
- NCI-TCGA Cosmic COSV6786
- cosmic curated COSV67864
- Pathogenic/Likely pathogenic
- Intellectual disability, X-linked 102; X-linked intellectual disability-hypotoni
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.54
- MetaSVM 0.11
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Intellectual disability, X-linked 102; X-linked intellectual dis)
- EBI: Pathogenic (in MRXSSB)
- UniProt: Pathogenic (in MRXSSB)
- Structural context available
- Cited in: DDX3X-Related Neurodevelopmental Disorder. (PMID 32852922)