A18S (p.Ala18Ser) variant of AMH (Anti-Muellerian hormone)
A18S (p.Ala18Ser) 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 0.15 / 1. The record also includes population frequency data and structural context.
A18S (p.Ala18Ser) variant details
- p.Ala18Ser
- ExAC rs749214406
- TOPMed rs749214406
- gnomAD rs749214406
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.145
- REVEL 0.17
- CADD 7.60
- PolyPhen-2 0.14
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available