V12G (p.Val12Gly) variant of AMH (Anti-Muellerian hormone)
V12G (p.Val12Gly) in AMH (Anti-Muellerian hormone) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Differences in sex development; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
V12G (p.Val12Gly) variant details
- p.Val12Gly
- rs149082963
- ClinGen CA9062708
- ClinVar RCV000439837
- ClinVar RCV003972605
- Uncertain significance
- Differences in sex development; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- REVEL 0.60
- CADD 18.20
- PolyPhen-2 0.27
- SIFT 0.00
- ClinVar: Uncertain significance (Differences in sex development; not provided)
- EBI: Pathogenic (in PMDS1)
- UniProt: Pathogenic (in PMDS1)
- Most common in the 1KG:CEU population (allele frequency 0.013)
- Structural context available
- 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)