R40* (p.Arg40Ter) variant of AMH (Anti-Muellerian hormone)
R40* (p.Arg40Ter) in AMH (Anti-Muellerian hormone) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
R40* (p.Arg40Ter) variant details
- p.Arg40Ter
- ExAC rs757212843
- TOPMed rs757212843
- gnomAD rs757212843
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.254
- CADD 24.50
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available