E28A (p.Glu28Ala) variant of AMH (Anti-Muellerian hormone)
E28A (p.Glu28Ala) in AMH (Anti-Muellerian hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
E28A (p.Glu28Ala) variant details
- p.Glu28Ala
- ExAC rs762279290
- TOPMed rs762279290
- gnomAD rs762279290
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.18
- CADD 13.60
- PolyPhen-2 0.02
- SIFT 0.05
- Most common in the Latino/Admixed American population (allele frequency 4.7e-05)
- Structural context available