E117Q (p.Glu117Gln) variant of DNAH5 (Dynein axonemal heavy chain 5)
E117Q (p.Glu117Gln) in DNAH5 (Dynein axonemal heavy chain 5) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
E117Q (p.Glu117Gln) variant details
- p.Glu117Gln
- 1000Genomes rs116128702
- ExAC rs116128702
- TOPMed rs116128702
- gnomAD rs116128702
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.11
- AlphaMissense 0.13
- MetaLR 0.09
- MetaSVM -1.08
- CADD 23.10
- PolyPhen-2 0.07
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available