L19Q (p.Leu19Gln) variant of AMH (Anti-Muellerian hormone)
L19Q (p.Leu19Gln) in AMH (Anti-Muellerian hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
L19Q (p.Leu19Gln) variant details
- p.Leu19Gln
- gnomAD 19-2249388-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.25
- CADD 14.10
- PolyPhen-2 0.45
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available