S28R (p.Ser28Arg) variant of HTR2C (5-hydroxytryptamine receptor 2C)
S28R (p.Ser28Arg) in HTR2C (5-hydroxytryptamine receptor 2C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
S28R (p.Ser28Arg) variant details
- p.Ser28Arg
- gnomAD X-114731342-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.18
- MetaLR 0.15
- MetaSVM -0.77
- CADD 17.80
- PolyPhen-2 0.30
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available