N8S (p.Asn8Ser) variant of DDX3X (ATP-dependent RNA helicase DDX3X)
N8S (p.Asn8Ser) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes structural context.
N8S (p.Asn8Ser) variant details
- p.Asn8Ser
- rs2147332802
- ClinGen CA412761511
- ClinVar RCV001768982
- Ensembl rs2147332802
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- ESM-1b 0.00
- AlphaMissense 0.17
- MetaLR 0.07
- MetaSVM -1.08
- PolyPhen-2 0.00
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available