S59P (p.Ser59Pro) variant of HTR2C (5-hydroxytryptamine receptor 2C)
S59P (p.Ser59Pro) in HTR2C (5-hydroxytryptamine receptor 2C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
S59P (p.Ser59Pro) variant details
- p.Ser59Pro
- ExAC rs781896215
- TOPMed rs781896215
- gnomAD rs781896215
- Missense
- Variant Prioritization Score for Impact Estimate 0.18
- REVEL 0.18
- MetaLR 0.07
- MetaSVM -1.05
- CADD 13.50
- PolyPhen-2 0.00
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available