K47R (p.Lys47Arg) variant of HTR2C (5-hydroxytryptamine receptor 2C)
K47R (p.Lys47Arg) in HTR2C (5-hydroxytryptamine receptor 2C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
K47R (p.Lys47Arg) variant details
- p.Lys47Arg
- gnomAD rs1556423310
- Missense
- Variant Prioritization Score for Impact Estimate 0.134
- REVEL 0.03
- MetaLR 0.05
- MetaSVM -1.05
- CADD 13.30
- PolyPhen-2 0.00
- SIFT 0.65
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available