S58A (p.Ser58Ala) variant of DDX3X (ATP-dependent RNA helicase DDX3X)
S58A (p.Ser58Ala) 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 0.25 / 1. The record also includes structural context.
S58A (p.Ser58Ala) variant details
- p.Ser58Ala
- rs1555952639
- ClinGen CA412764730
- ClinVar RCV000497901
- Ensembl rs1555952639
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.08
- MetaSVM -1.04
- PolyPhen-2 0.79
- SIFT 0.16
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available