L12H (p.Leu12His) variant of HTR2C (5-hydroxytryptamine receptor 2C)
L12H (p.Leu12His) in HTR2C (5-hydroxytryptamine receptor 2C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
L12H (p.Leu12His) variant details
- p.Leu12His
- gnomAD X-114726971-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.33
- MetaLR 0.17
- MetaSVM -0.87
- CADD 24.50
- PolyPhen-2 0.94
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available