C1679Y (p.Cys1679Tyr) variant of DNAH5 (Dynein axonemal heavy chain 5)
C1679Y (p.Cys1679Tyr) in DNAH5 (Dynein axonemal heavy chain 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Primary ciliary dyskinesia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
C1679Y (p.Cys1679Tyr) variant details
- p.Cys1679Tyr
- rs1221785647
- ClinGen CA359217075
- ClinVar RCV000796716
- TOPMed rs1221785647
- Likely pathogenic
- Primary ciliary dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- REVEL 0.77
- MetaLR 0.64
- MetaSVM 0.61
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Likely pathogenic (Primary ciliary dyskinesia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)