R78Q (p.Arg78Gln) variant of DNAH5 (Dynein axonemal heavy chain 5)
R78Q (p.Arg78Gln) in DNAH5 (Dynein axonemal heavy chain 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Primary ciliary dyskinesia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
R78Q (p.Arg78Gln) variant details
- p.Arg78Gln
- rs755574532
- ClinGen CA3205244
- NCI-TCGA Cosmic COSV5423
- ClinVar RCV003537601
- Likely benign
- Primary ciliary dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.12
- MetaLR 0.08
- MetaSVM -1.07
- CADD 20.90
- PolyPhen-2 0.01
- SIFT 0.13
- ClinVar: Likely benign (Primary ciliary dyskinesia)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)