R40L (p.Arg40Leu) variant of AMH (Anti-Muellerian hormone)
R40L (p.Arg40Leu) in AMH (Anti-Muellerian hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
R40L (p.Arg40Leu) variant details
- p.Arg40Leu
- 1000Genomes rs576266262
- ExAC rs576266262
- TOPMed rs576266262
- gnomAD rs576266262
- Missense
- Variant Prioritization Score for Impact Estimate 0.167
- REVEL 0.24
- CADD 0.10
- PolyPhen-2 0.00
- SIFT 0.73
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available