V148M (p.Val148Met) variant of DNAH5 (Dynein axonemal heavy chain 5)
V148M (p.Val148Met) 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.
V148M (p.Val148Met) variant details
- p.Val148Met
- ExAC rs752112052
- gnomAD rs752112052
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.16
- AlphaMissense 0.12
- MetaLR 0.09
- MetaSVM -1.05
- CADD 9.76
- PolyPhen-2 0.00
- Population evidence available
- Structural context available