A31P (p.Ala31Pro) variant of AMH (Anti-Muellerian hormone)
A31P (p.Ala31Pro) in AMH (Anti-Muellerian hormone) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data.
A31P (p.Ala31Pro) variant details
- p.Ala31Pro
- ExAC rs766829297
- TOPMed rs766829297
- gnomAD rs766829297
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.30
- CADD 18.10
- PolyPhen-2 0.60
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 8.3e-05)