E102Q (p.Glu102Gln) variant of HTR2A (5-hydroxytryptamine receptor 2A)
E102Q (p.Glu102Gln) in HTR2A (5-hydroxytryptamine receptor 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
E102Q (p.Glu102Gln) variant details
- p.Glu102Gln
- gnomAD 13-46895603-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- REVEL 0.35
- MetaLR 0.18
- MetaSVM -0.73
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available