R78G (p.Arg78Gly) variant of DNAH5 (Dynein axonemal heavy chain 5)
R78G (p.Arg78Gly) in DNAH5 (Dynein axonemal heavy chain 5) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
R78G (p.Arg78Gly) variant details
- p.Arg78Gly
- TOPMed rs1314223921
- gnomAD rs1314223921
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.18
- MetaLR 0.09
- MetaSVM -1.05
- CADD 23.60
- PolyPhen-2 0.12
- SIFT 0.05
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available