E28* (p.Glu28Ter) variant of AMH (Anti-Muellerian hormone)
E28* (p.Glu28Ter) in AMH (Anti-Muellerian hormone) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
E28* (p.Glu28Ter) variant details
- p.Glu28Ter
- gnomAD 19-2249414-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.791
- CADD 33.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 2e-05)
- Structural context available
- Literature evidence available