R140Q (p.Arg140Gln) variant of HTR2A (5-hydroxytryptamine receptor 2A)
R140Q (p.Arg140Gln) in HTR2A (5-hydroxytryptamine receptor 2A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
R140Q (p.Arg140Gln) variant details
- p.Arg140Gln
- rs754348347
- ClinGen CA6977651
- ClinVar RCV004090527
- ExAC rs754348347
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.10
- MetaLR 0.15
- MetaSVM -1.02
- CADD 17.10
- PolyPhen-2 0.00
- SIFT 0.27
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available