T92I (p.Thr92Ile) variant of DNAH5 (Dynein axonemal heavy chain 5)
T92I (p.Thr92Ile) 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 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
T92I (p.Thr92Ile) variant details
- p.Thr92Ile
- rs765566079
- ClinGen CA359226478
- ClinVar RCV001976703
- ExAC rs765566079
- Uncertain significance
- Primary ciliary dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.05
- MetaLR 0.05
- MetaSVM -1.08
- CADD 24.50
- PolyPhen-2 0.00
- SIFT 0.11
- 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)