C188Y (p.Cys188Tyr) variant of AMH (Anti-Muellerian hormone)
C188Y (p.Cys188Tyr) in AMH (Anti-Muellerian hormone) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Persistent Mullerian duct syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data.
C188Y (p.Cys188Tyr) variant details
- p.Cys188Tyr
- rs2025018868
- ClinGen CA403240249
- ClinVar RCV001268948
- Ensembl rs2025018868
- Pathogenic
- Persistent Mullerian duct syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.731
- REVEL 0.71
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Persistent Mullerian duct syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 5.6e-06)