R45C (p.Arg45Cys) variant of HTR2C (5-hydroxytryptamine receptor 2C)
R45C (p.Arg45Cys) in HTR2C (5-hydroxytryptamine receptor 2C) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. 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.
R45C (p.Arg45Cys) variant details
- p.Arg45Cys
- rs1556423301
- NCI-TCGA Cosmic COSV5220
- NCI-TCGA Cosmic COSV5221
- cosmic curated COSV52219
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.19
- MetaLR 0.20
- MetaSVM -0.58
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available