R2366Q (p.Arg2366Gln) variant of DNAH5 (Dynein axonemal heavy chain 5)
R2366Q (p.Arg2366Gln) 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 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
R2366Q (p.Arg2366Gln) variant details
- p.Arg2366Gln
- rs2151800505
- ClinGen CA359190822
- ClinVar RCV003538892
- NCI-TCGA TCGA novel
- Pathogenic
- Primary ciliary dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.878
- REVEL 0.92
- MetaLR 0.88
- MetaSVM 1.01
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic (Primary ciliary dyskinesia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)