R30W (p.Arg30Trp) variant of DNAH5 (Dynein axonemal heavy chain 5)
R30W (p.Arg30Trp) in DNAH5 (Dynein axonemal heavy chain 5) is a missense change. Clinical records from EBI and UniProt describe it as benign. 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.
R30W (p.Arg30Trp) variant details
- p.Arg30Trp
- rs114220185
- ClinGen CA350348
- ClinVar RCV000206301
- ClinVar RCV000242149
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.28
- MetaLR 0.15
- MetaSVM -0.66
- CADD 24.70
- PolyPhen-2 0.97
- SIFT 0.00
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available
- Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)