R5G (p.Arg5Gly) variant of HTR2C (5-hydroxytryptamine receptor 2C)
R5G (p.Arg5Gly) in HTR2C (5-hydroxytryptamine receptor 2C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
R5G (p.Arg5Gly) variant details
- p.Arg5Gly
- gnomAD X-114726949-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- REVEL 0.07
- MetaLR 0.06
- MetaSVM -1.02
- CADD 20.80
- PolyPhen-2 0.00
- SIFT 0.25
- Population evidence available
- Structural context available
- Literature evidence available