V8L (p.Val8Leu) variant of HTR2C (5-hydroxytryptamine receptor 2C)
V8L (p.Val8Leu) in HTR2C (5-hydroxytryptamine receptor 2C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
V8L (p.Val8Leu) variant details
- p.Val8Leu
- gnomAD X-114726958-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.10
- MetaLR 0.10
- MetaSVM -1.04
- CADD 23.40
- PolyPhen-2 0.99
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available