L4Q (p.Leu4Gln) variant of AMH (Anti-Muellerian hormone)
L4Q (p.Leu4Gln) in AMH (Anti-Muellerian hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
L4Q (p.Leu4Gln) variant details
- p.Leu4Gln
- gnomAD 19-2249343-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.111
- REVEL 0.14
- CADD 0.25
- PolyPhen-2 0.00
- SIFT 0.53
- Population evidence available
- Structural context available
- Literature evidence available