E117* (p.Glu117Ter) variant of DNAH5 (Dynein axonemal heavy chain 5)
E117* (p.Glu117Ter) in DNAH5 (Dynein axonemal heavy chain 5) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
E117* (p.Glu117Ter) variant details
- p.Glu117Ter
- rs116128702
- ClinGen CA359223945
- ClinVar RCV000528988
- 1000Genomes rs116128702
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.308
- AlphaMissense 0.13
- MetaLR 0.09
- MetaSVM -1.08
- PolyPhen-2 0.07
- SIFT 0.04
- MutPred 0.42
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)