T46I (p.Thr46Ile) variant of HTR2A (5-hydroxytryptamine receptor 2A)
T46I (p.Thr46Ile) in HTR2A (5-hydroxytryptamine receptor 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
T46I (p.Thr46Ile) variant details
- p.Thr46Ile
- ExAC rs749275506
- TOPMed rs749275506
- gnomAD rs749275506
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.28
- MetaLR 0.09
- MetaSVM -1.04
- CADD 24.00
- PolyPhen-2 0.23
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available