L71H (p.Leu71His) variant of DNAH5 (Dynein axonemal heavy chain 5)
L71H (p.Leu71His) in DNAH5 (Dynein axonemal heavy chain 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
L71H (p.Leu71His) variant details
- p.Leu71His
- TOPMed rs1402805753
- gnomAD rs1402805753
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.29
- MetaLR 0.09
- MetaSVM -1.05
- CADD 24.30
- SIFT 0.00
- Population evidence available
- Structural context available