L103V (p.Leu103Val) variant of DNAH5 (Dynein axonemal heavy chain 5)
L103V (p.Leu103Val) 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.
L103V (p.Leu103Val) variant details
- p.Leu103Val
- ESP rs375788827
- ExAC rs375788827
- TOPMed rs375788827
- gnomAD rs375788827
- Missense
- Variant Prioritization Score for Impact Estimate 0.152
- REVEL 0.04
- MetaLR 0.02
- MetaSVM -0.96
- CADD 9.09
- PolyPhen-2 0.00
- SIFT 0.61
- Population evidence available
- Structural context available