A27E (p.Ala27Glu) variant of AMH (Anti-Muellerian hormone)
A27E (p.Ala27Glu) in AMH (Anti-Muellerian hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
A27E (p.Ala27Glu) variant details
- p.Ala27Glu
- gnomAD 19-2249412-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.141
- REVEL 0.19
- CADD 0.41
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available