E23V (p.Glu23Val) variant of AMH (Anti-Muellerian hormone)
E23V (p.Glu23Val) in AMH (Anti-Muellerian hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
E23V (p.Glu23Val) variant details
- p.Glu23Val
- gnomAD 19-2249400-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.121
- REVEL 0.14
- CADD 5.27
- PolyPhen-2 0.07
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available