V27* (p.Val27Ter) variant of HTR2C (5-hydroxytryptamine receptor 2C)
V27* (p.Val27Ter) in HTR2C (5-hydroxytryptamine receptor 2C) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
V27* (p.Val27Ter) variant details
- p.Val27Ter
- gnomAD X-114731335-CT-C
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.68
- CADD 23.20
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available