V126L (p.Val126Leu) variant of DNAH5 (Dynein axonemal heavy chain 5)
V126L (p.Val126Leu) 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.
V126L (p.Val126Leu) variant details
- p.Val126Leu
- ESP rs375321703
- ExAC rs375321703
- TOPMed rs375321703
- gnomAD rs375321703
- Missense
- Variant Prioritization Score for Impact Estimate 0.149
- REVEL 0.05
- MetaLR 0.03
- MetaSVM -0.98
- CADD 8.85
- PolyPhen-2 0.00
- SIFT 0.15
- Population evidence available
- Structural context available