R2P (p.Arg2Pro) variant of AMH (Anti-Muellerian hormone)
R2P (p.Arg2Pro) 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 0.15 / 1. The record also includes population frequency data and structural context.
R2P (p.Arg2Pro) variant details
- p.Arg2Pro
- ExAC rs767665662
- TOPMed rs767665662
- gnomAD rs767665662
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.149
- REVEL 0.22
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.13
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available