H14N (p.His14Asn) variant of HTR2C (5-hydroxytryptamine receptor 2C)
H14N (p.His14Asn) in HTR2C (5-hydroxytryptamine receptor 2C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
H14N (p.His14Asn) variant details
- p.His14Asn
- gnomAD X-114731298-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.17
- MetaLR 0.18
- MetaSVM -0.83
- CADD 22.90
- PolyPhen-2 0.99
- SIFT 0.34
- Population evidence available
- Structural context available
- Literature evidence available