E23G (p.Glu23Gly) variant of AMH (Anti-Muellerian hormone)
E23G (p.Glu23Gly) in AMH (Anti-Muellerian hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
E23G (p.Glu23Gly) variant details
- p.Glu23Gly
- gnomAD 19-2249400-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.145
- REVEL 0.18
- CADD 4.69
- PolyPhen-2 0.00
- SIFT 0.29
- Population evidence available
- Structural context available
- Literature evidence available