V55M (p.Val55Met) variant of DNAH5 (Dynein axonemal heavy chain 5)
V55M (p.Val55Met) in DNAH5 (Dynein axonemal heavy chain 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
V55M (p.Val55Met) variant details
- p.Val55Met
- TOPMed rs1778371267
- gnomAD rs1778371267
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.19
- MetaLR 0.18
- MetaSVM -0.75
- CADD 24.60
- PolyPhen-2 0.82
- SIFT 0.00
- Population evidence available
- Structural context available