C47Y (p.Cys47Tyr) variant of DNAH5 (Dynein axonemal heavy chain 5)
C47Y (p.Cys47Tyr) in DNAH5 (Dynein axonemal heavy chain 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
C47Y (p.Cys47Tyr) variant details
- p.Cys47Tyr
- ESP rs374796461
- ExAC rs374796461
- gnomAD rs374796461
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.17
- MetaLR 0.05
- MetaSVM -1.07
- CADD 19.70
- PolyPhen-2 0.09
- SIFT 0.10
- Population evidence available
- Structural context available