V12L (p.Val12Leu) variant of AMH (Anti-Muellerian hormone)
V12L (p.Val12Leu) in AMH (Anti-Muellerian hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
V12L (p.Val12Leu) variant details
- p.Val12Leu
- gnomAD 19-2249366-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.112
- REVEL 0.12
- CADD 5.23
- PolyPhen-2 0.01
- SIFT 0.28
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.1e-05)
- Structural context available
- Literature evidence available