P30Q (p.Pro30Gln) variant of AMH (Anti-Muellerian hormone)
P30Q (p.Pro30Gln) in AMH (Anti-Muellerian hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and published literature.
P30Q (p.Pro30Gln) variant details
- p.Pro30Gln
- gnomAD 19-2249421-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.14
- CADD 4.74
- PolyPhen-2 0.00
- SIFT 0.12
- Population evidence available
- Literature evidence available