P5L (p.Pro5Leu) variant of AMH (Anti-Muellerian hormone)
P5L (p.Pro5Leu) in AMH (Anti-Muellerian hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
P5L (p.Pro5Leu) variant details
- p.Pro5Leu
- ExAC rs764523289
- TOPMed rs764523289
- gnomAD rs764523289
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.18
- CADD 11.00
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the HGDP:BURUSHO population (allele frequency 0.021)
- Structural context available