A122V (p.Ala122Val) variant of DNAH5 (Dynein axonemal heavy chain 5)
A122V (p.Ala122Val) in DNAH5 (Dynein axonemal heavy chain 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
A122V (p.Ala122Val) variant details
- p.Ala122Val
- gnomAD rs1234602973
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.17
- MetaLR 0.08
- MetaSVM -1.09
- CADD 22.20
- PolyPhen-2 0.02
- SIFT 0.00
- Population evidence available
- Structural context available