E147D (p.Glu147Asp) variant of DNAH5 (Dynein axonemal heavy chain 5)
E147D (p.Glu147Asp) 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 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
E147D (p.Glu147Asp) variant details
- p.Glu147Asp
- rs200732050
- ClinGen CA113967196
- ClinVar RCV001369425
- 1000Genomes rs200732050
- Uncertain significance
- Primary ciliary dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.17
- AlphaMissense 0.12
- MetaLR 0.09
- MetaSVM -1.05
- CADD 7.28
- PolyPhen-2 0.01
- 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)