L16W (p.Leu16Trp) variant of AMH (Anti-Muellerian hormone)
L16W (p.Leu16Trp) in AMH (Anti-Muellerian hormone) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
L16W (p.Leu16Trp) variant details
- p.Leu16Trp
- gnomAD 19-2249375-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.232
- CADD 12.70
- Population evidence available
- Structural context available
- Literature evidence available