V2M (p.Val2Met) variant of HTR2C (5-hydroxytryptamine receptor 2C)
V2M (p.Val2Met) 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 0.27 / 1. The record also includes population frequency data and structural context.
V2M (p.Val2Met) variant details
- p.Val2Met
- TOPMed rs200113008
- Uncertain significance
- HTR2C-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.14
- MetaLR 0.09
- MetaSVM -1.01
- CADD 24.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (HTR2C-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.3e-06)
- Structural context available