G17D (p.Gly17Asp) variant of HTR2C (5-hydroxytryptamine receptor 2C)
G17D (p.Gly17Asp) in HTR2C (5-hydroxytryptamine receptor 2C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
G17D (p.Gly17Asp) variant details
- p.Gly17Asp
- gnomAD X-114731308-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.27
- MetaLR 0.25
- MetaSVM -0.74
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available