E91* (p.Glu91Ter) variant of DNAH5 (Dynein axonemal heavy chain 5)
E91* (p.Glu91Ter) 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 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
E91* (p.Glu91Ter) variant details
- p.Glu91Ter
- rs750649191
- ClinGen CA3205237
- ClinVar RCV000732076
- ClinVar RCV001384589
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.757
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)