D36E (p.Asp36Glu) variant of HTR2C (5-hydroxytryptamine receptor 2C)
D36E (p.Asp36Glu) 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 record also includes variant effect predictions and structural context.
D36E (p.Asp36Glu) variant details
- p.Asp36Glu
- TOPMed rs2069535051
- Uncertain significance
- HTR2C-related disorder
- Missense
- MetaLR 0.13
- MetaSVM -1.00
- SIFT 0.17
- ClinVar: Uncertain significance (HTR2C-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available