G34A (p.Gly34Ala) variant of MC4R (Melanocortin receptor 4)
G34A (p.Gly34Ala) 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 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
G34A (p.Gly34Ala) variant details
- p.Gly34Ala
- ExAC rs754799513
- TOPMed rs754799513
- gnomAD rs754799513
- UniProt VAR 091159
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.156
- REVEL 0.04
- MetaLR 0.06
- MetaSVM -1.04
- CADD 12.40
- PolyPhen-2 0.00
- SIFT 0.53
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: Obesity due to MC4R deficiency is associated with reduced cholesterol, triglycerides and cardiovascular disease risk. (PMID 41102563)