L18R (p.Leu18Arg) variant of HTR2C (5-hydroxytryptamine receptor 2C)
L18R (p.Leu18Arg) in HTR2C (5-hydroxytryptamine receptor 2C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
L18R (p.Leu18Arg) variant details
- p.Leu18Arg
- gnomAD X-114731311-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.32
- MetaLR 0.24
- MetaSVM -0.59
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available