V50M (p.Val50Met) variant of MC4R (Melanocortin receptor 4)
V50M (p.Val50Met) 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 0.39 / 1. The record also includes published literature and structural context.
V50M (p.Val50Met) variant details
- p.Val50Met
- rs121913557
- ClinGen CA210713
- ClinVar RCV000015396
- ClinVar RCV004760334
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- AlphaMissense 0.37
- MetaLR 0.26
- MetaSVM -0.59
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.25
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Mutational analysis of melanocortin-4 receptor, agouti-related protein, and alpha-melanocyte-stimulating hormone genes… (PMID 11487744)
- Cited in: Human Gain-of-Function MC4R Variants Show Signaling Bias and Protect against Obesity. (PMID 31002796)