I33M (p.Ile33Met) variant of HTR2C (5-hydroxytryptamine receptor 2C)
I33M (p.Ile33Met) in HTR2C (5-hydroxytryptamine receptor 2C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of HTR2C-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
I33M (p.Ile33Met) variant details
- p.Ile33Met
- ExAC rs199898127
- TOPMed rs199898127
- gnomAD rs199898127
- Uncertain significance
- HTR2C-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.08
- MetaLR 0.08
- MetaSVM -1.04
- CADD 16.30
- PolyPhen-2 0.00
- SIFT 0.24
- ClinVar: Uncertain significance (HTR2C-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00024)
- Structural context available