R52Q (p.Arg52Gln) variant of HTR2A (5-hydroxytryptamine receptor 2A)
R52Q (p.Arg52Gln) in HTR2A (5-hydroxytryptamine receptor 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
R52Q (p.Arg52Gln) variant details
- p.Arg52Gln
- cosmic curated COSV66327
- 1000Genomes rs572796124
- ExAC rs572796124
- TOPMed rs572796124
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.10
- MetaLR 0.04
- MetaSVM -1.02
- CADD 22.10
- PolyPhen-2 0.00
- SIFT 0.64
- Most common in the 1KG:KHV population (allele frequency 0.005)
- Structural context available