S8G (p.Ser8Gly) variant of AMH (Anti-Muellerian hormone)
S8G (p.Ser8Gly) in AMH (Anti-Muellerian hormone) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
S8G (p.Ser8Gly) variant details
- p.Ser8Gly
- gnomAD 19-2249335-G-GCGG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.731
- CADD 23.50
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available