G101R (p.Gly101Arg) variant of AMH (Anti-Muellerian hormone)
G101R (p.Gly101Arg) in AMH (Anti-Muellerian hormone) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Persistent Mullerian duct syndrome; Differences in sex development. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
G101R (p.Gly101Arg) variant details
- p.Gly101Arg
- ExAC rs778071215
- TOPMed rs778071215
- gnomAD rs778071215
- Likely pathogenic
- Persistent Mullerian duct syndrome; Differences in sex development
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- REVEL 0.62
- CADD 23.40
- PolyPhen-2 0.50
- SIFT 0.00
- MutPred 0.83
- ClinVar: Likely pathogenic (Persistent Mullerian duct syndrome; Differences in sex developme)
- EBI: Likely pathogenic (in PMDS1)
- UniProt: Likely pathogenic (in PMDS1)
- Most common in the South Asian population (allele frequency 0.00038)
- Structural context available