F125L (p.Phe125Leu) variant of HTR2A (5-hydroxytryptamine receptor 2A)
F125L (p.Phe125Leu) in HTR2A (5-hydroxytryptamine receptor 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
F125L (p.Phe125Leu) variant details
- p.Phe125Leu
- gnomAD 13-46895534-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.27
- MetaLR 0.02
- MetaSVM -1.00
- CADD 19.40
- PolyPhen-2 0.01
- SIFT 0.84
- Population evidence available
- Structural context available
- Literature evidence available