G93R (p.Gly93Arg) variant of DNAH5 (Dynein axonemal heavy chain 5)
G93R (p.Gly93Arg) in DNAH5 (Dynein axonemal heavy chain 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Primary ciliary dyskinesia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
G93R (p.Gly93Arg) variant details
- p.Gly93Arg
- rs1428534050
- ClinGen CA359226469
- ClinVar RCV001255291
- TOPMed rs1428534050
- Conflicting interpretations
- Primary ciliary dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.13
- MetaLR 0.07
- MetaSVM -1.08
- CADD 33.00
- PolyPhen-2 0.01
- SIFT 0.09
- ClinVar: Conflicting classifications of pathogenicity (Primary ciliary dyskinesia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)