R465C (p.Arg465Cys) variant of AMH (Anti-Muellerian hormone)
R465C (p.Arg465Cys) 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 Genetic non-acquired premature ovarian failure. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data.
R465C (p.Arg465Cys) variant details
- p.Arg465Cys
- rs2145032534
- ClinGen CA403243000
- ClinVar RCV001663378
- Ensembl rs2145032534
- Likely pathogenic
- Genetic non-acquired premature ovarian failure
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- REVEL 0.60
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Genetic non-acquired premature ovarian failure)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available