R45H (p.Arg45His) variant of HTR2C (5-hydroxytryptamine receptor 2C)
R45H (p.Arg45His) in HTR2C (5-hydroxytryptamine receptor 2C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
R45H (p.Arg45His) variant details
- p.Arg45His
- cosmic curated COSV10437
- gnomAD rs1556423306
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.17
- MetaLR 0.14
- MetaSVM -1.00
- CADD 24.00
- PolyPhen-2 1.00
- SIFT 0.07
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available