G17C (p.Gly17Cys) variant of HTR2C (5-hydroxytryptamine receptor 2C)
G17C (p.Gly17Cys) in HTR2C (5-hydroxytryptamine receptor 2C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
G17C (p.Gly17Cys) variant details
- p.Gly17Cys
- gnomAD X-114731307-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.35
- MetaLR 0.26
- MetaSVM -0.56
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the East Asian population (allele frequency 3.4e-05)
- Structural context available
- Literature evidence available