G62V (p.Gly62Val) variant of DNAH5 (Dynein axonemal heavy chain 5)
G62V (p.Gly62Val) in DNAH5 (Dynein axonemal heavy chain 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
G62V (p.Gly62Val) variant details
- p.Gly62Val
- gnomAD rs1778369249
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.20
- MetaLR 0.09
- MetaSVM -1.03
- CADD 19.70
- PolyPhen-2 0.09
- SIFT 0.00
- Population evidence available
- Structural context available