D57E (p.Asp57Glu) variant of DNAH5 (Dynein axonemal heavy chain 5)
D57E (p.Asp57Glu) in DNAH5 (Dynein axonemal heavy chain 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
D57E (p.Asp57Glu) variant details
- p.Asp57Glu
- TOPMed rs1329352324
- gnomAD rs1329352324
- Missense
- Variant Prioritization Score for Impact Estimate 0.149
- REVEL 0.11
- MetaLR 0.03
- MetaSVM -1.04
- CADD 14.70
- SIFT 0.25
- Population evidence available
- Structural context available