P30T (p.Pro30Thr) variant of AMH (Anti-Muellerian hormone)
P30T (p.Pro30Thr) in AMH (Anti-Muellerian hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data.
P30T (p.Pro30Thr) variant details
- p.Pro30Thr
- 1000Genomes rs538374149
- ExAC rs538374149
- TOPMed rs538374149
- gnomAD rs538374149
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- REVEL 0.12
- CADD 13.80
- PolyPhen-2 0.11
- SIFT 0.02
- MutPred 0.43
- Most common in the 1KG:GWD population (allele frequency 0.0043)