F46S (p.Phe46Ser) variant of HTR2C (5-hydroxytryptamine receptor 2C)
F46S (p.Phe46Ser) in HTR2C (5-hydroxytryptamine receptor 2C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
F46S (p.Phe46Ser) variant details
- p.Phe46Ser
- ExAC rs782099601
- gnomAD rs782099601
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.26
- MetaLR 0.07
- MetaSVM -1.06
- CADD 20.10
- PolyPhen-2 0.23
- SIFT 0.43
- Most common in the Finnish in Finland (FIN) population (allele frequency 4.9e-05)
- Structural context available