L18I (p.Leu18Ile) variant of HTR2C (5-hydroxytryptamine receptor 2C)
L18I (p.Leu18Ile) in HTR2C (5-hydroxytryptamine receptor 2C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
L18I (p.Leu18Ile) variant details
- p.Leu18Ile
- cosmic curated COSV99348
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.17
- MetaLR 0.25
- MetaSVM -0.56
- CADD 24.50
- PolyPhen-2 0.99
- SIFT 0.17
- Population evidence available
- Structural context available