L54P (p.Leu54Pro) variant of MC4R (Melanocortin receptor 4)
L54P (p.Leu54Pro) 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 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
L54P (p.Leu54Pro) variant details
- p.Leu54Pro
- rs376439188
- ClinGen CA8980972
- ClinVar RCV000582060
- ClinVar RCV005091521
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- REVEL 0.73
- MetaLR 0.16
- MetaSVM -0.85
- CADD 28.00
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Obesity due to MC4R deficiency is associated with reduced cholesterol, triglycerides and cardiovascular disease risk. (PMID 41102563)
- Cited in: Pediatric Obesity-Assessment, Treatment, and Prevention: An Endocrine Society Clinical Practice Guideline. (PMID 28359099)