L40* (p.Leu40Ter) variant of DNAH5 (Dynein axonemal heavy chain 5)
L40* (p.Leu40Ter) in DNAH5 (Dynein axonemal heavy chain 5) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
L40* (p.Leu40Ter) variant details
- p.Leu40Ter
- gnomAD rs996206105
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.71
- CADD 37.00
- Population evidence available
- Structural context available