A18D (p.Ala18Asp) variant of AMH (Anti-Muellerian hormone)
A18D (p.Ala18Asp) in AMH (Anti-Muellerian hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
A18D (p.Ala18Asp) variant details
- p.Ala18Asp
- gnomAD 19-2249385-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.20
- CADD 18.70
- PolyPhen-2 0.52
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available