H14R (p.His14Arg) variant of HTR2C (5-hydroxytryptamine receptor 2C)
H14R (p.His14Arg) in HTR2C (5-hydroxytryptamine receptor 2C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
H14R (p.His14Arg) variant details
- p.His14Arg
- gnomAD X-114731299-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.23
- MetaLR 0.18
- MetaSVM -0.69
- CADD 24.20
- PolyPhen-2 0.99
- SIFT 0.30
- Population evidence available
- Structural context available
- Literature evidence available