E29* (p.Glu29Ter) variant of AMH (Anti-Muellerian hormone)
E29* (p.Glu29Ter) in AMH (Anti-Muellerian hormone) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
E29* (p.Glu29Ter) variant details
- p.Glu29Ter
- gnomAD 19-2249417-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.399
- CADD 33.00
- Population evidence available
- Structural context available
- Literature evidence available