R78* (p.Arg78Ter) variant of DNAH5 (Dynein axonemal heavy chain 5)
R78* (p.Arg78Ter) 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 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
R78* (p.Arg78Ter) variant details
- p.Arg78Ter
- rs1314223921
- ClinGen CA359227174
- NCI-TCGA Cosmic COSV5424
- ClinVar RCV001863336
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.631
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)