R1716Q (p.Arg1716Gln) variant of DNAH5 (Dynein axonemal heavy chain 5)
R1716Q (p.Arg1716Gln) in DNAH5 (Dynein axonemal heavy chain 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Primary ciliary dyskinesia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
R1716Q (p.Arg1716Gln) variant details
- p.Arg1716Gln
- rs74799487
- ClinGen CA359214373
- NCI-TCGA Cosmic COSV1043
- ClinVar RCV004106725
- Uncertain significance
- Primary ciliary dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.893
- REVEL 0.94
- AlphaMissense 0.98
- MetaLR 0.93
- MetaSVM 1.11
- CADD 28.30
- PolyPhen-2 0.99
- ClinVar: Uncertain significance (Primary ciliary dyskinesia)
- EBI: Variant of uncertain significance (in CILD3)
- UniProt: Uncertain significance (in CILD3)
- Population evidence available
- Structural context available
- Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)