G43C (p.Gly43Cys) variant of HTR2C (5-hydroxytryptamine receptor 2C)
G43C (p.Gly43Cys) 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 and structural context.
G43C (p.Gly43Cys) variant details
- p.Gly43Cys
- cosmic curated COSV52204
- ExAC rs781924099
- gnomAD rs781924099
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.19
- MetaLR 0.14
- MetaSVM -0.94
- CADD 25.20
- PolyPhen-2 0.89
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available