I33T (p.Ile33Thr) variant of HTR2C (5-hydroxytryptamine receptor 2C)
I33T (p.Ile33Thr) in HTR2C (5-hydroxytryptamine receptor 2C) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
I33T (p.Ile33Thr) variant details
- p.Ile33Thr
- 1000Genomes rs782499464
- ExAC rs782499464
- TOPMed rs782499464
- gnomAD rs782499464
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.07
- MetaLR 0.08
- MetaSVM -1.06
- CADD 17.00
- PolyPhen-2 0.02
- SIFT 0.42
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 4.4e-05)
- Structural context available