L12P (p.Leu12Pro) variant of HTR2C (5-hydroxytryptamine receptor 2C)
L12P (p.Leu12Pro) in HTR2C (5-hydroxytryptamine receptor 2C) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
L12P (p.Leu12Pro) variant details
- p.Leu12Pro
- gnomAD X-114726966-A-AT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.231
- CADD 21.20
- Population evidence available
- Structural context available
- Literature evidence available