E29K (p.Glu29Lys) variant of AMH (Anti-Muellerian hormone)
E29K (p.Glu29Lys) in AMH (Anti-Muellerian hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
E29K (p.Glu29Lys) variant details
- p.Glu29Lys
- gnomAD 19-2249417-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.18
- CADD 7.12
- PolyPhen-2 0.00
- SIFT 0.25
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available