L6V (p.Leu6Val) variant of AMH (Anti-Muellerian hormone)
L6V (p.Leu6Val) in AMH (Anti-Muellerian hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
L6V (p.Leu6Val) variant details
- p.Leu6Val
- TOPMed rs1184490585
- gnomAD rs1184490585
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.15
- CADD 9.59
- PolyPhen-2 0.02
- SIFT 0.05
- Most common in the Ashkenazi Jewish population (allele frequency 3.9e-05)
- Structural context available