L12L (p.Leu12Leu) variant of HTR2C (5-hydroxytryptamine receptor 2C)
L12L (p.Leu12Leu) in HTR2C (5-hydroxytryptamine receptor 2C) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
L12L (p.Leu12Leu) variant details
- p.Leu12Leu
- gnomAD X-114731294-T-G
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.146
- CADD 9.29
- Population evidence available
- Structural context available
- Literature evidence available