D34N (p.Asp34Asn) variant of DNAH5 (Dynein axonemal heavy chain 5)
D34N (p.Asp34Asn) in DNAH5 (Dynein axonemal heavy chain 5) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
D34N (p.Asp34Asn) variant details
- p.Asp34Asn
- rs1215107095
- ClinGen CA359230270
- ClinVar RCV000695860
- TOPMed rs1215107095
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.28
- MetaLR 0.19
- MetaSVM -0.79
- CADD 23.30
- PolyPhen-2 0.89
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)