V52I (p.Val52Ile) variant of HTR2C (5-hydroxytryptamine receptor 2C)
V52I (p.Val52Ile) in HTR2C (5-hydroxytryptamine receptor 2C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
V52I (p.Val52Ile) variant details
- p.Val52Ile
- ExAC rs74465306
- TOPMed rs74465306
- gnomAD rs74465306
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.08
- MetaLR 0.04
- MetaSVM -1.09
- CADD 22.70
- PolyPhen-2 0.99
- SIFT 0.19
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available