A27G (p.Ala27Gly) variant of AMH (Anti-Muellerian hormone)
A27G (p.Ala27Gly) 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.
A27G (p.Ala27Gly) variant details
- p.Ala27Gly
- gnomAD 19-2249412-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.112
- REVEL 0.14
- CADD 2.24
- PolyPhen-2 0.00
- SIFT 0.50
- Population evidence available
- Structural context available
- Literature evidence available