Y84* (p.Tyr84Ter) variant of DNAH5 (Dynein axonemal heavy chain 5)
Y84* (p.Tyr84Ter) 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 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
Y84* (p.Tyr84Ter) variant details
- p.Tyr84Ter
- rs754982008
- ClinGen CA3205241
- ClinVar RCV000629311
- ExAC rs754982008
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.47
- CADD 34.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)