L20R (p.Leu20Arg) variant of AMH (Anti-Muellerian hormone)
L20R (p.Leu20Arg) in AMH (Anti-Muellerian hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
L20R (p.Leu20Arg) variant details
- p.Leu20Arg
- gnomAD 19-2249391-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.43
- CADD 18.00
- PolyPhen-2 0.22
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available