Y84C (p.Tyr84Cys) variant of DNAH5 (Dynein axonemal heavy chain 5)
Y84C (p.Tyr84Cys) in DNAH5 (Dynein axonemal heavy chain 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Primary ciliary dyskinesia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
Y84C (p.Tyr84Cys) variant details
- p.Tyr84Cys
- rs780968511
- ClinGen CA3205242
- ClinVar RCV002634076
- ExAC rs780968511
- Benign
- Primary ciliary dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.39
- MetaLR 0.23
- MetaSVM -0.55
- CADD 26.50
- PolyPhen-2 0.91
- SIFT 0.01
- ClinVar: Benign (Primary ciliary dyskinesia)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available
- Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)