A27T (p.Ala27Thr) variant of AMH (Anti-Muellerian hormone)
A27T (p.Ala27Thr) in AMH (Anti-Muellerian hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
A27T (p.Ala27Thr) variant details
- p.Ala27Thr
- TOPMed rs1199745234
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.12
- CADD 5.03
- PolyPhen-2 0.00
- SIFT 0.50
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available