K47E (p.Lys47Glu) variant of HTR2C (5-hydroxytryptamine receptor 2C)
K47E (p.Lys47Glu) 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.
K47E (p.Lys47Glu) variant details
- p.Lys47Glu
- ExAC rs782725427
- gnomAD rs782725427
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.13
- MetaLR 0.05
- MetaSVM -1.01
- CADD 14.40
- PolyPhen-2 0.03
- SIFT 0.93
- Most common in the South Asian population (allele frequency 9.2e-05)
- Structural context available