I33R (p.Ile33Arg) variant of HTR2C (5-hydroxytryptamine receptor 2C)
I33R (p.Ile33Arg) in HTR2C (5-hydroxytryptamine receptor 2C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
I33R (p.Ile33Arg) variant details
- p.Ile33Arg
- 1000Genomes rs782499464
- ExAC rs782499464
- TOPMed rs782499464
- gnomAD rs782499464
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.11
- MetaLR 0.08
- MetaSVM -1.05
- CADD 18.40
- SIFT 0.34
- Most common in the 1KG:ITU population (allele frequency 0.0071)
- Structural context available