S19G (p.Ser19Gly) variant of MC4R (Melanocortin receptor 4)
S19G (p.Ser19Gly) in MC4R (Melanocortin receptor 4) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
S19G (p.Ser19Gly) variant details
- p.Ser19Gly
- UniProt VAR 091157
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.07
- MetaLR 0.12
- MetaSVM -1.01
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.05
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Obesity due to MC4R deficiency is associated with reduced cholesterol, triglycerides and cardiovascular disease risk. (PMID 41102563)