A18L (p.Ala18Leu) variant of AMH (Anti-Muellerian hormone)
A18L (p.Ala18Leu) in AMH (Anti-Muellerian hormone) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
A18L (p.Ala18Leu) variant details
- p.Ala18Leu
- rs1374682589
- gnomAD 19-2249379-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.241
- CADD 22.70
- Most common in the Ashkenazi Jewish population (allele frequency 7.8e-05)
- Structural context available
- Literature evidence available