G75R (p.Gly75Arg) variant of DNAH5 (Dynein axonemal heavy chain 5)
G75R (p.Gly75Arg) in DNAH5 (Dynein axonemal heavy chain 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
G75R (p.Gly75Arg) variant details
- p.Gly75Arg
- TOPMed rs1355502912
- gnomAD rs1355502912
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.18
- MetaLR 0.07
- MetaSVM -1.07
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.06
- Population evidence available
- Structural context available