A42V (p.Ala42Val) variant of DNAH5 (Dynein axonemal heavy chain 5)
A42V (p.Ala42Val) in DNAH5 (Dynein axonemal heavy chain 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
A42V (p.Ala42Val) variant details
- p.Ala42Val
- ExAC rs752487711
- gnomAD rs752487711
- Missense
- Variant Prioritization Score for Impact Estimate 0.146
- REVEL 0.05
- MetaLR 0.06
- MetaSVM -1.00
- CADD 16.80
- PolyPhen-2 0.02
- SIFT 0.05
- Population evidence available
- Structural context available