S23P (p.Ser23Pro) variant of HTR2C (5-hydroxytryptamine receptor 2C)
S23P (p.Ser23Pro) in HTR2C (5-hydroxytryptamine receptor 2C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
S23P (p.Ser23Pro) variant details
- p.Ser23Pro
- gnomAD X-114731325-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.12
- CADD 18.20
- PolyPhen-2 0.00
- SIFT 0.20
- Most common in the South Asian population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available