R16Q (p.Arg16Gln) variant of DNAH5 (Dynein axonemal heavy chain 5)
R16Q (p.Arg16Gln) 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 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
R16Q (p.Arg16Gln) variant details
- p.Arg16Gln
- rs778890170
- ClinGen CA3205306
- ClinVar RCV003066881
- ExAC rs778890170
- Conflicting interpretations
- Primary ciliary dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.07
- MetaLR 0.06
- MetaSVM -1.12
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.14
- ClinVar: Conflicting classifications of pathogenicity (Primary ciliary dyskinesia)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)