D50D (p.Asp50Asp) variant of HTR2C (5-hydroxytryptamine receptor 2C)
D50D (p.Asp50Asp) in HTR2C (5-hydroxytryptamine receptor 2C) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
D50D (p.Asp50Asp) variant details
- p.Asp50Asp
- rs202042319
- gnomAD X-114731408-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.245
- CADD 8.51
- Most common in the African/African-American population (allele frequency 3.3e-05)
- Structural context available
- Literature evidence available