G3921R (p.Gly3921Arg) variant of DNAH5 (Dynein axonemal heavy chain 5)
G3921R (p.Gly3921Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes published literature and structural context.
G3921R (p.Gly3921Arg) variant details
- p.Gly3921Arg
- rs2126606457
- ClinGen CA359222422
- ClinVar RCV002019866
- Ensembl rs2126606457
- Pathogenic
- Primary ciliary dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.773
- MutPred 0.77
- ClinVar: Pathogenic (Primary ciliary dyskinesia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)