R45S (p.Arg45Ser) variant of HTR2C (5-hydroxytryptamine receptor 2C)
R45S (p.Arg45Ser) in HTR2C (5-hydroxytryptamine receptor 2C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
R45S (p.Arg45Ser) variant details
- p.Arg45Ser
- cosmic curated COSV52200
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.17
- MetaLR 0.11
- MetaSVM -1.03
- CADD 22.30
- PolyPhen-2 1.00
- SIFT 0.46
- Population evidence available
- Structural context available