E42K (p.Glu42Lys) variant of MC4R (Melanocortin receptor 4)
E42K (p.Glu42Lys) in MC4R (Melanocortin receptor 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
E42K (p.Glu42Lys) variant details
- p.Glu42Lys
- rs776051881
- NCI-TCGA Cosmic COSV5535
- ExAC rs776051881
- TOPMed rs776051881
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.22
- MetaLR 0.17
- MetaSVM -0.74
- CADD 23.40
- PolyPhen-2 0.63
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Obesity due to MC4R deficiency is associated with reduced cholesterol, triglycerides and cardiovascular disease risk. (PMID 41102563)