R2W (p.Arg2Trp) variant of AMH (Anti-Muellerian hormone)
R2W (p.Arg2Trp) in AMH (Anti-Muellerian hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
R2W (p.Arg2Trp) variant details
- p.Arg2Trp
- ExAC rs774060964
- TOPMed rs774060964
- gnomAD rs774060964
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.27
- CADD 11.10
- PolyPhen-2 0.12
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 0.00018)
- Structural context available