E28K (p.Glu28Lys) variant of AMH (Anti-Muellerian hormone)
E28K (p.Glu28Lys) in AMH (Anti-Muellerian hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
E28K (p.Glu28Lys) variant details
- p.Glu28Lys
- ExAC rs753970896
- gnomAD rs753970896
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.17
- CADD 14.90
- PolyPhen-2 0.00
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available