L116F (p.Leu116Phe) variant of HTR2A (5-hydroxytryptamine receptor 2A)
L116F (p.Leu116Phe) in HTR2A (5-hydroxytryptamine receptor 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
L116F (p.Leu116Phe) variant details
- p.Leu116Phe
- gnomAD 13-46895561-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.784
- REVEL 0.82
- MetaLR 0.90
- MetaSVM 1.03
- CADD 26.20
- PolyPhen-2 0.74
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available