E89K (p.Glu89Lys) variant of DNAH5 (Dynein axonemal heavy chain 5)
E89K (p.Glu89Lys) 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 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
E89K (p.Glu89Lys) variant details
- p.Glu89Lys
- rs1346326284
- ClinGen CA359226691
- ClinVar RCV002453123
- TOPMed rs1346326284
- Uncertain significance
- Primary ciliary dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.08
- MetaLR 0.03
- MetaSVM -1.06
- CADD 17.80
- PolyPhen-2 0.02
- SIFT 0.77
- ClinVar: Uncertain significance (Primary ciliary dyskinesia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)