T25N (p.Thr25Asn) variant of HTR2A (5-hydroxytryptamine receptor 2A)
T25N (p.Thr25Asn) in HTR2A (5-hydroxytryptamine receptor 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
T25N (p.Thr25Asn) variant details
- p.Thr25Asn
- rs1805055
- cosmic curated COSV66327
- UniProt VAR 003448
- 1000Genomes rs1805055
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.12
- MetaLR 0.03
- MetaSVM -1.09
- CADD 18.00
- PolyPhen-2 0.01
- SIFT 0.30
- Most common in the 1KG:GIH population (allele frequency 0.06)
- Structural context available
- Cited in: Unified approach to the analysis of genetic variation in serotonergic pathways. (PMID 10581480)
- Cited in: Systematic screening for mutations in the human serotonin-2A (5-HT2A) receptor gene: identification of two naturally… (PMID 8655141)