E23D (p.Glu23Asp) variant of AMH (Anti-Muellerian hormone)
E23D (p.Glu23Asp) 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, published literature, and structural context.
E23D (p.Glu23Asp) variant details
- p.Glu23Asp
- gnomAD 19-2249401-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.16
- CADD 9.27
- PolyPhen-2 0.00
- SIFT 0.21
- MutPred 0.43
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available