I102S (p.Ile102Ser) variant of MC4R (Melanocortin receptor 4)
I102S (p.Ile102Ser) in MC4R (Melanocortin receptor 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes published literature and structural context.
I102S (p.Ile102Ser) variant details
- p.Ile102Ser
- rs121913559
- ClinGen CA210715
- ClinVar RCV000015398
- UniProt VAR 038639
- Pathogenic
- BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- AlphaMissense 0.76
- MetaLR 0.15
- MetaSVM -0.90
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.20
- ClinVar: Pathogenic (BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20)
- 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: Functional analyses of melanocortin-4 receptor mutations identified from patients with binge eating disorder and… (PMID 16030156)