P41S (p.Pro41Ser) variant of DDX3X (ATP-dependent RNA helicase DDX3X)
P41S (p.Pro41Ser) 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 not provided; DDX3X-related disorder; Inborn genetic diseases. 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.
P41S (p.Pro41Ser) variant details
- p.Pro41Ser
- rs1064793796
- ClinGen CA16621378
- cosmic curated COSV10533
- ClinVar RCV000483467
- Pathogenic/Likely pathogenic
- not provided; DDX3X-related disorder; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- REVEL 0.29
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 24.40
- PolyPhen-2 0.03
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; DDX3X-related disorder; Inborn genetic diseases)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- 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)