V12E (p.Val12Glu) variant of AMH (Anti-Muellerian hormone)
V12E (p.Val12Glu) in AMH (Anti-Muellerian hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
V12E (p.Val12Glu) variant details
- p.Val12Glu
- gnomAD 19-2249367-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.36
- CADD 18.90
- PolyPhen-2 0.60
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available