S57N (p.Ser57Asn) variant of DDX3X (ATP-dependent RNA helicase DDX3X)
S57N (p.Ser57Asn) 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 Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
S57N (p.Ser57Asn) variant details
- p.Ser57Asn
- rs749047477
- ClinGen CA10389375
- ClinVar RCV002091473
- ClinVar RCV003015239
- Benign/Likely benign
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- REVEL 0.02
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 21.20
- PolyPhen-2 0.00
- SIFT 0.27
- ClinVar: Benign/Likely benign (Inborn genetic diseases; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the South Asian population (allele frequency 0.00056)
- 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)