S61G (p.Ser61Gly) variant of DDX3X (ATP-dependent RNA helicase DDX3X)
S61G (p.Ser61Gly) in DDX3X (ATP-dependent RNA helicase DDX3X) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
S61G (p.Ser61Gly) variant details
- p.Ser61Gly
- rs778806111
- ClinGen CA10389377
- ClinVar RCV001709455
- ClinVar RCV002539726
- Benign/Likely benign
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 23.60
- PolyPhen-2 0.00
- SIFT 0.29
- ClinVar: Benign/Likely benign (not provided; Inborn genetic diseases)
- EBI: Benign
- UniProt: Benign
- Most common in the Latino/Admixed American population (allele frequency 9.5e-05)
- 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)