M1? variant of DDX3X (ATP-dependent RNA helicase DDX3X)
M1? in DDX3X (ATP-dependent RNA helicase DDX3X) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes published literature and structural context.
M1? variant details
- rs1555950665
- cosmic curated COSV10130
- ClinGen CA412761418
- NCI-TCGA Cosmic COSV1013
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- MetaLR 0.10
- MetaSVM -1.01
- PolyPhen-2 0.27
- SIFT 0.00
- MutPred 0.98
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)