V8A (p.Val8Ala) variant of HTR2C (5-hydroxytryptamine receptor 2C)
V8A (p.Val8Ala) in HTR2C (5-hydroxytryptamine receptor 2C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
V8A (p.Val8Ala) variant details
- p.Val8Ala
- gnomAD X-114726959-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.23
- MetaLR 0.10
- MetaSVM -1.00
- CADD 24.20
- PolyPhen-2 0.99
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available