R3539P (p.Arg3539Pro) variant of DNAH5 (Dynein axonemal heavy chain 5)
R3539P (p.Arg3539Pro) in DNAH5 (Dynein axonemal heavy chain 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Primary ciliary dyskinesia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
R3539P (p.Arg3539Pro) variant details
- p.Arg3539Pro
- rs769458738
- ClinGen CA359192142
- ClinVar RCV003651339
- Likely pathogenic
- Primary ciliary dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.873
- REVEL 0.92
- MetaLR 0.81
- MetaSVM 0.95
- CADD 28.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Primary ciliary dyskinesia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)