D57G (p.Asp57Gly) variant of DNAH5 (Dynein axonemal heavy chain 5)
D57G (p.Asp57Gly) in DNAH5 (Dynein axonemal heavy chain 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
D57G (p.Asp57Gly) variant details
- p.Asp57Gly
- gnomAD rs1047218300
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.17
- MetaLR 0.11
- MetaSVM -0.99
- CADD 24.40
- PolyPhen-2 0.04
- SIFT 0.00
- Population evidence available
- Structural context available