R26S (p.Arg26Ser) variant of AMH (Anti-Muellerian hormone)
R26S (p.Arg26Ser) in AMH (Anti-Muellerian hormone) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
R26S (p.Arg26Ser) variant details
- p.Arg26Ser
- gnomAD 19-2249407-CAG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.193
- CADD 15.90
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available