E28D (p.Glu28Asp) variant of AMH (Anti-Muellerian hormone)
E28D (p.Glu28Asp) in AMH (Anti-Muellerian hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
E28D (p.Glu28Asp) variant details
- p.Glu28Asp
- gnomAD 19-2249416-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0987
- REVEL 0.13
- CADD 0.78
- PolyPhen-2 0.00
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available