P151S (p.Pro151Ser) variant of AMH (Anti-Muellerian hormone)
P151S (p.Pro151Ser) in AMH (Anti-Muellerian hormone) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic in the context of not provided; Persistent Mullerian duct syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
P151S (p.Pro151Ser) variant details
- p.Pro151Ser
- ESP rs370532523
- ExAC rs370532523
- TOPMed rs370532523
- gnomAD rs370532523
- Pathogenic
- not provided; Persistent Mullerian duct syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- REVEL 0.45
- CADD 23.10
- PolyPhen-2 0.98
- SIFT 0.03
- MutPred 0.71
- ClinVar: Pathogenic (not provided; Persistent Mullerian duct syndrome)
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 0.00019)
- Structural context available