D69E (p.Asp69Glu) variant of DNAH5 (Dynein axonemal heavy chain 5)
D69E (p.Asp69Glu) in DNAH5 (Dynein axonemal heavy chain 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Primary ciliary dyskinesia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
D69E (p.Asp69Glu) variant details
- p.Asp69Glu
- rs777266031
- ClinGen CA3205246
- ClinVar RCV002158088
- ExAC rs777266031
- Conflicting interpretations
- Primary ciliary dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.156
- REVEL 0.12
- MetaLR 0.04
- MetaSVM -1.06
- CADD 14.70
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (Primary ciliary dyskinesia)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)