R2L (p.Arg2Leu) variant of AMH (Anti-Muellerian hormone)
R2L (p.Arg2Leu) in AMH (Anti-Muellerian hormone) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
R2L (p.Arg2Leu) variant details
- p.Arg2Leu
- ExAC rs767665662
- TOPMed rs767665662
- gnomAD rs767665662
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.157
- REVEL 0.23
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.14
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available