Y4165H (p.Tyr4165His) variant of DNAH5 (Dynein axonemal heavy chain 5)
Y4165H (p.Tyr4165His) in DNAH5 (Dynein axonemal heavy chain 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Primary ciliary dyskinesia 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
Y4165H (p.Tyr4165His) variant details
- p.Tyr4165His
- rs1744666930
- ClinGen CA359208800
- ClinVar RCV003234816
- Ensembl rs1744666930
- Pathogenic
- Primary ciliary dyskinesia 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- REVEL 0.56
- MetaLR 0.17
- MetaSVM -0.43
- CADD 25.90
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (Primary ciliary dyskinesia 3)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)