R2833S (p.Arg2833Ser) variant of DNAH5 (Dynein axonemal heavy chain 5)
R2833S (p.Arg2833Ser) 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 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
R2833S (p.Arg2833Ser) variant details
- p.Arg2833Ser
- rs766481283
- ClinGen CA359217938
- ClinVar RCV003538990
- ExAC rs766481283
- Pathogenic
- Primary ciliary dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.56
- AlphaMissense 0.16
- MetaLR 0.05
- MetaSVM -1.00
- CADD 24.90
- PolyPhen-2 0.00
- ClinVar: Pathogenic (Primary ciliary dyskinesia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)