C271Y (p.Cys271Tyr) variant of MC4R (Melanocortin receptor 4)
C271Y (p.Cys271Tyr) in MC4R (Melanocortin receptor 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Obesity due to melanocortin 4 receptor deficiency; not provided; Obesity. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
C271Y (p.Cys271Tyr) variant details
- p.Cys271Tyr
- rs121913562
- ClinGen CA210718
- ClinVar RCV000015405
- ClinVar RCV000768578
- Pathogenic
- Obesity due to melanocortin 4 receptor deficiency; not provided; Obesity
- Missense
- Variant Prioritization Score for Impact Estimate 0.799
- REVEL 0.84
- MetaLR 0.69
- MetaSVM 0.56
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Obesity due to melanocortin 4 receptor deficiency; not provided;)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Mutations in the human melanocortin-4 receptor gene associated with severe familial obesity disrupts receptor function… (PMID 12588803)
- Cited in: Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene. (PMID 12646665)