S23C (p.Ser23Cys) variant of HTR2C (5-hydroxytryptamine receptor 2C)
S23C (p.Ser23Cys) 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 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
S23C (p.Ser23Cys) variant details
- p.Ser23Cys
- rs6318
- UniProt VAR 003450
- 1000Genomes rs6318
- ESP rs6318
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.122
- CADD 5.88
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Benign (in dbSNP:rs6318)
- UniProt: Benign (in dbSNP:rs6318)
- Most common in the HGDP:JAPANESE population (allele frequency 1)
- Structural context available
- Cited in: Association analysis between a Cys23Ser substitution polymorphism of the human 5-HT2c receptor gene and neuronal… (PMID 10206230)
- Cited in: Characterization of single-nucleotide polymorphisms in coding regions of human genes. (PMID 10391209)