V477A (p.Val477Ala) variant of AMH (Anti-Muellerian hormone)
V477A (p.Val477Ala) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes published literature.
V477A (p.Val477Ala) variant details
- p.Val477Ala
- rs1358787117
- UniProt VAR 007492
- gnomAD rs1358787117
- Likely pathogenic
- Persistent Mullerian duct syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.823
- MutPred 0.82
- ClinVar: Likely pathogenic (Persistent Mullerian duct syndrome)
- EBI: Pathogenic (in PMDS1)
- UniProt: Pathogenic (in PMDS1)
- Cited in: Molecular genetics of the persistent müllerian duct syndrome: a study of 19 families. (PMID 8162013)
- Cited in: A 27 base-pair deletion of the anti-müllerian type II receptor gene is the most common cause of the persistent… (PMID 8872466)