Q14H (p.Gln14His) variant of DDX3X (ATP-dependent RNA helicase DDX3X)
Q14H (p.Gln14His) in DDX3X (ATP-dependent RNA helicase DDX3X) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Intellectual disability, X-linked 102. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes published literature and structural context.
Q14H (p.Gln14His) variant details
- p.Gln14His
- rs2147332861
- ClinGen CA412761595
- ClinVar RCV002259427
- Ensembl rs2147332861
- Benign
- Intellectual disability, X-linked 102
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- ESM-1b 0.20
- AlphaMissense 0.67
- MetaLR 0.13
- MetaSVM -0.96
- PolyPhen-2 0.53
- SIFT 0.00
- ClinVar: Benign (Intellectual disability, X-linked 102)
- EBI: Benign
- UniProt: Benign
- Structural context available
- Cited in: DDX3X-Related Neurodevelopmental Disorder. (PMID 32852922)