Q64E (p.Gln64Glu) variant of DNAH5 (Dynein axonemal heavy chain 5)
Q64E (p.Gln64Glu) 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.
Q64E (p.Gln64Glu) variant details
- p.Gln64Glu
- ExAC rs781567141
- TOPMed rs781567141
- gnomAD rs781567141
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.18
- MetaLR 0.06
- MetaSVM -1.00
- CADD 22.00
- PolyPhen-2 0.00
- SIFT 0.05
- Population evidence available
- Structural context available