N62S (p.Asn62Ser) variant of MC4R (Melanocortin receptor 4)
N62S (p.Asn62Ser) in MC4R (Melanocortin receptor 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Obesity due to melanocortin 4 receptor deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
N62S (p.Asn62Ser) variant details
- p.Asn62Ser
- rs121913566
- ClinGen CA210724
- ClinVar RCV000015410
- ClinVar RCV004017251
- Likely pathogenic
- Obesity due to melanocortin 4 receptor deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.844
- REVEL 0.95
- MetaLR 0.96
- MetaSVM 1.09
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Obesity due to melanocortin 4 receptor deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:YI population (allele frequency 0.05)
- 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)