I62T (p.Ile62Thr) variant of HTR2C (5-hydroxytryptamine receptor 2C)
I62T (p.Ile62Thr) in HTR2C (5-hydroxytryptamine receptor 2C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
I62T (p.Ile62Thr) variant details
- p.Ile62Thr
- ExAC rs782220418
- gnomAD rs782220418
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.14
- MetaLR 0.06
- MetaSVM -1.05
- CADD 15.40
- PolyPhen-2 0.04
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available