P41H (p.Pro41His) variant of DDX3X (ATP-dependent RNA helicase DDX3X)
P41H (p.Pro41His) in DDX3X (ATP-dependent RNA helicase DDX3X) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Intellectual disability, X-linked 102. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
P41H (p.Pro41His) variant details
- p.Pro41His
- rs1341824034
- ClinGen CA412762957
- ClinVar RCV001253093
- gnomAD rs1341824034
- Uncertain significance
- Intellectual disability, X-linked 102
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- REVEL 0.37
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 23.90
- PolyPhen-2 0.20
- SIFT 0.00
- ClinVar: Uncertain significance (Intellectual disability, X-linked 102)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.3e-06)
- Structural context available
- Cited in: DDX3X-Related Neurodevelopmental Disorder. (PMID 32852922)