H14Q (p.His14Gln) variant of HTR2C (5-hydroxytryptamine receptor 2C)
H14Q (p.His14Gln) in HTR2C (5-hydroxytryptamine receptor 2C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
H14Q (p.His14Gln) variant details
- p.His14Gln
- gnomAD rs78203490
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.18
- MetaLR 0.16
- MetaSVM -0.94
- CADD 23.30
- PolyPhen-2 1.00
- SIFT 0.32
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00018)
- Structural context available