E28G (p.Glu28Gly) variant of AMH (Anti-Muellerian hormone)
E28G (p.Glu28Gly) in AMH (Anti-Muellerian hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
E28G (p.Glu28Gly) variant details
- p.Glu28Gly
- gnomAD 19-2249415-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.24
- CADD 15.40
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available