Y39C (p.Tyr39Cys) variant of DNAH5 (Dynein axonemal heavy chain 5)
Y39C (p.Tyr39Cys) 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 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
Y39C (p.Tyr39Cys) variant details
- p.Tyr39Cys
- rs1469239990
- ClinGen CA359230170
- ClinVar RCV001056809
- TOPMed rs1469239990
- Uncertain significance
- Primary ciliary dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.45
- MetaLR 0.11
- MetaSVM -0.93
- CADD 23.50
- PolyPhen-2 0.11
- SIFT 0.00
- 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)