R16* (p.Arg16Ter) variant of DNAH5 (Dynein axonemal heavy chain 5)
R16* (p.Arg16Ter) in DNAH5 (Dynein axonemal heavy chain 5) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
R16* (p.Arg16Ter) variant details
- p.Arg16Ter
- rs772230378
- ClinGen CA3205308
- ClinVar RCV000810523
- ClinVar RCV002507409
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.691
- CADD 38.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)