Y84H (p.Tyr84His) variant of DNAH5 (Dynein axonemal heavy chain 5)
Y84H (p.Tyr84His) in DNAH5 (Dynein axonemal heavy chain 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Primary ciliary dyskinesia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
Y84H (p.Tyr84His) variant details
- p.Tyr84His
- rs1159823492
- ClinGen CA359226959
- ClinVar RCV003649965
- TOPMed rs1159823492
- Conflicting interpretations
- Primary ciliary dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.22
- MetaLR 0.11
- MetaSVM -1.02
- CADD 22.70
- PolyPhen-2 0.06
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (Primary ciliary dyskinesia)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)