N3H (p.Asn3His) variant of HTR2C (5-hydroxytryptamine receptor 2C)
N3H (p.Asn3His) in HTR2C (5-hydroxytryptamine receptor 2C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
N3H (p.Asn3His) variant details
- p.Asn3His
- gnomAD X-114726943-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.12
- MetaLR 0.16
- MetaSVM -0.92
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.3e-06)
- Structural context available
- Literature evidence available