L6H (p.Leu6His) variant of AMH (Anti-Muellerian hormone)
L6H (p.Leu6His) in AMH (Anti-Muellerian hormone) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
L6H (p.Leu6His) variant details
- p.Leu6His
- rs2024986025
- gnomAD 19-2249345-CCT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.309
- CADD 14.60
- Most common in the African/African-American population (allele frequency 3.1e-05)
- Structural context available
- Literature evidence available