A31S (p.Ala31Ser) variant of AMH (Anti-Muellerian hormone)
A31S (p.Ala31Ser) 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 Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data.
A31S (p.Ala31Ser) variant details
- p.Ala31Ser
- ExAC rs766829297
- TOPMed rs766829297
- gnomAD rs766829297
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.13
- CADD 6.66
- PolyPhen-2 0.04
- SIFT 0.07
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)