C2030G (p.Cys2030Gly) variant of DNAH5 (Dynein axonemal heavy chain 5)
C2030G (p.Cys2030Gly) in DNAH5 (Dynein axonemal heavy chain 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Primary ciliary dyskinesia 3; Primary ciliary dyskinesia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
C2030G (p.Cys2030Gly) variant details
- p.Cys2030Gly
- rs1763453207
- ClinGen CA359201718
- ClinVar RCV001315694
- ClinVar RCV005038066
- Pathogenic/Likely pathogenic
- Primary ciliary dyskinesia 3; Primary ciliary dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.598
- REVEL 0.66
- MetaLR 0.16
- MetaSVM -0.61
- CADD 28.40
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Primary ciliary dyskinesia 3; Primary ciliary dyskinesia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)