L4R (p.Leu4Arg) variant of HTR2C (5-hydroxytryptamine receptor 2C)
L4R (p.Leu4Arg) in HTR2C (5-hydroxytryptamine receptor 2C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
L4R (p.Leu4Arg) variant details
- p.Leu4Arg
- gnomAD X-114726947-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.24
- MetaLR 0.18
- MetaSVM -0.74
- CADD 23.00
- PolyPhen-2 0.27
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available