R75H (p.Arg75His) variant of DDX3X (ATP-dependent RNA helicase DDX3X)
R75H (p.Arg75His) 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 0.32 / 1. The record also includes population frequency data and structural context.
R75H (p.Arg75His) variant details
- p.Arg75His
- rs1569236301
- ClinGen CA412764961
- cosmic curated COSV11606
- ClinVar RCV002306351
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.13
- ESM-1b 0.27
- AlphaMissense 0.31
- CADD 22.60
- PolyPhen-2 0.23
- SIFT 0.11
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available