L11P (p.Leu11Pro) variant of AMH (Anti-Muellerian hormone)
L11P (p.Leu11Pro) in AMH (Anti-Muellerian hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
L11P (p.Leu11Pro) variant details
- p.Leu11Pro
- gnomAD 19-2249364-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.564
- REVEL 0.54
- CADD 22.70
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available