D65G (p.Asp65Gly) variant of DDX3X (ATP-dependent RNA helicase DDX3X)
D65G (p.Asp65Gly) 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 Inborn genetic diseases; Intellectual disability, X-linked 102; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
D65G (p.Asp65Gly) variant details
- p.Asp65Gly
- rs2063850443
- ClinGen CA412764828
- ClinVar RCV001596088
- ClinVar RCV002592509
- Uncertain significance
- Inborn genetic diseases; Intellectual disability, X-linked 102; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.27
- CADD 23.30
- PolyPhen-2 0.00
- SIFT 0.44
- ClinVar: Uncertain significance (Inborn genetic diseases; Intellectual disability, X-linked 102;)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)