L9W (p.Leu9Trp) variant of AMH (Anti-Muellerian hormone)
L9W (p.Leu9Trp) in AMH (Anti-Muellerian hormone) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
L9W (p.Leu9Trp) variant details
- p.Leu9Trp
- rs1269596532
- gnomAD 19-2249355-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.151
- CADD 9.89
- Most common in the African/African-American population (allele frequency 0.00019)
- Structural context available
- Literature evidence available