S23F (p.Ser23Phe) variant of HTR2C (5-hydroxytryptamine receptor 2C)
S23F (p.Ser23Phe) in HTR2C (5-hydroxytryptamine receptor 2C) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
S23F (p.Ser23Phe) variant details
- p.Ser23Phe
- 1000Genomes rs6318
- ESP rs6318
- ExAC rs6318
- TOPMed rs6318
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.101
- CADD 4.07
- PolyPhen-2 0.00
- SIFT 0.70
- EBI: Benign (in dbSNP:rs6318)
- UniProt: Benign (in dbSNP:rs6318)
- Population evidence available
- Structural context available