G55V (p.Gly55Val) variant of MC4R (Melanocortin receptor 4)
G55V (p.Gly55Val) 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 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
G55V (p.Gly55Val) variant details
- p.Gly55Val
- TOPMed rs1270948834
- gnomAD rs1270948834
- UniProt VAR 091165
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- REVEL 0.68
- MetaLR 0.15
- MetaSVM -0.94
- CADD 25.40
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 8.9e-05)
- Structural context available
- Cited in: Obesity due to MC4R deficiency is associated with reduced cholesterol, triglycerides and cardiovascular disease risk. (PMID 41102563)