R1716L (p.Arg1716Leu) variant of DNAH5 (Dynein axonemal heavy chain 5)
R1716L (p.Arg1716Leu) in DNAH5 (Dynein axonemal heavy chain 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Primary ciliary dyskinesia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
R1716L (p.Arg1716Leu) variant details
- p.Arg1716Leu
- rs74799487
- ClinGen CA113954672
- ClinVar RCV001958774
- UniProt VAR 030705
- Pathogenic
- Primary ciliary dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.911
- REVEL 0.95
- AlphaMissense 0.98
- MetaLR 0.93
- MetaSVM 1.11
- CADD 32.00
- PolyPhen-2 0.99
- ClinVar: Pathogenic (Primary ciliary dyskinesia)
- EBI: Pathogenic (in CILD3)
- UniProt: Pathogenic (in CILD3)
- Population evidence available
- Structural context available
- Cited in: DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects. (PMID 16627867)
- Cited in: Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia. (PMID 25186273)