L12F (p.Leu12Phe) variant of HTR2C (5-hydroxytryptamine receptor 2C)
L12F (p.Leu12Phe) in HTR2C (5-hydroxytryptamine receptor 2C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
L12F (p.Leu12Phe) variant details
- p.Leu12Phe
- ExAC rs199958275
- gnomAD rs199958275
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- REVEL 0.04
- MetaLR 0.13
- MetaSVM -0.92
- CADD 16.60
- PolyPhen-2 0.04
- SIFT 0.23
- Most common in the South Asian population (allele frequency 4.8e-05)
- Structural context available