Y84S (p.Tyr84Ser) variant of DNAH5 (Dynein axonemal heavy chain 5)
Y84S (p.Tyr84Ser) 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 0.36 / 1. The record also includes population frequency data and structural context.
Y84S (p.Tyr84Ser) variant details
- p.Tyr84Ser
- ExAC rs780968511
- TOPMed rs780968511
- gnomAD rs780968511
- Uncertain significance
- Primary ciliary dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.29
- MetaLR 0.18
- MetaSVM -0.68
- CADD 25.70
- PolyPhen-2 0.64
- SIFT 0.00
- ClinVar: Uncertain significance (Primary ciliary dyskinesia)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available