F38L (p.Phe38Leu) variant of HTR2C (5-hydroxytryptamine receptor 2C)
F38L (p.Phe38Leu) in HTR2C (5-hydroxytryptamine receptor 2C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
F38L (p.Phe38Leu) variant details
- p.Phe38Leu
- gnomAD X-114731372-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.18
- MetaLR 0.04
- MetaSVM -0.99
- CADD 13.90
- PolyPhen-2 0.98
- SIFT 0.59
- Most common in the Non-Finnish European population (allele frequency 6e-06)
- Structural context available
- Literature evidence available