I316S (p.Ile316Ser) variant of MC4R (Melanocortin receptor 4)
I316S (p.Ile316Ser) in MC4R (Melanocortin receptor 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20; Obesity due to melanocortin 4 recep. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
I316S (p.Ile316Ser) variant details
- p.Ile316Ser
- rs121913564
- ClinGen CA210720
- ClinVar RCV000015407
- ClinVar RCV000778539
- Pathogenic/Likely pathogenic
- BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20; Obesity due to melanocortin 4 recep
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- REVEL 0.67
- MetaLR 0.22
- MetaSVM -0.63
- CADD 28.20
- PolyPhen-2 0.82
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20; Obesity due to mela)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 0.00041)
- 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)