R1716P (p.Arg1716Pro) variant of DNAH5 (Dynein axonemal heavy chain 5)
R1716P (p.Arg1716Pro) in DNAH5 (Dynein axonemal heavy chain 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Primary ciliary dyskinesia 3; Primary ciliary dyskinesia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
R1716P (p.Arg1716Pro) variant details
- p.Arg1716Pro
- rs74799487
- ClinGen CA359214371
- ClinVar RCV001202749
- Ensembl rs74799487
- Pathogenic/Likely pathogenic
- Primary ciliary dyskinesia 3; Primary ciliary dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.902
- AlphaMissense 0.98
- MetaLR 0.93
- MetaSVM 1.11
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.73
- ClinVar: Pathogenic/Likely pathogenic (Primary ciliary dyskinesia 3; Primary ciliary dyskinesia)
- EBI: Pathogenic (in CILD3)
- UniProt: Pathogenic (in CILD3)
- Structural context available
- Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)