P30L (p.Pro30Leu) variant of AMH (Anti-Muellerian hormone)
P30L (p.Pro30Leu) in AMH (Anti-Muellerian hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data.
P30L (p.Pro30Leu) variant details
- p.Pro30Leu
- gnomAD rs960479195
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.20
- CADD 7.78
- PolyPhen-2 0.22
- SIFT 0.06
- Most common in the Ashkenazi Jewish population (allele frequency 7.8e-05)