R5K (p.Arg5Lys) variant of HTR2C (5-hydroxytryptamine receptor 2C)
R5K (p.Arg5Lys) in HTR2C (5-hydroxytryptamine receptor 2C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
R5K (p.Arg5Lys) variant details
- p.Arg5Lys
- gnomAD X-114726950-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.05
- MetaLR 0.06
- MetaSVM -1.03
- CADD 10.40
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available