L80V (p.Leu80Val) variant of DNAH5 (Dynein axonemal heavy chain 5)
L80V (p.Leu80Val) in DNAH5 (Dynein axonemal heavy chain 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
L80V (p.Leu80Val) variant details
- p.Leu80Val
- TOPMed rs986424981
- gnomAD rs986424981
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.09
- MetaLR 0.10
- MetaSVM -0.99
- CADD 19.50
- PolyPhen-2 0.07
- SIFT 0.04
- Population evidence available
- Structural context available