E23A (p.Glu23Ala) variant of AMH (Anti-Muellerian hormone)
E23A (p.Glu23Ala) in AMH (Anti-Muellerian hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
E23A (p.Glu23Ala) variant details
- p.Glu23Ala
- gnomAD 19-2249400-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.107
- REVEL 0.13
- CADD 2.82
- PolyPhen-2 0.01
- SIFT 0.22
- Population evidence available
- Structural context available
- Literature evidence available