I16T (p.Ile16Thr) variant of HTR2C (5-hydroxytryptamine receptor 2C)
I16T (p.Ile16Thr) in HTR2C (5-hydroxytryptamine receptor 2C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
I16T (p.Ile16Thr) variant details
- p.Ile16Thr
- ESP rs375844687
- ExAC rs375844687
- TOPMed rs375844687
- gnomAD rs375844687
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.28
- MetaLR 0.07
- MetaSVM -1.06
- CADD 23.10
- PolyPhen-2 0.16
- SIFT 0.53
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available