R18C (p.Arg18Cys) variant of MC4R (Melanocortin receptor 4)
R18C (p.Arg18Cys) in MC4R (Melanocortin receptor 4) 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 0.29 / 1. The record also includes population frequency data and structural context.
R18C (p.Arg18Cys) variant details
- p.Arg18Cys
- rs749768113
- NCI-TCGA Cosmic COSV5535
- ExAC rs749768113
- gnomAD rs749768113
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.12
- MetaLR 0.05
- MetaSVM -1.08
- CADD 23.00
- PolyPhen-2 0.04
- SIFT 0.19
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 5.8e-05)
- Structural context available