S58C (p.Ser58Cys) variant of MC4R (Melanocortin receptor 4)
S58C (p.Ser58Cys) 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 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
S58C (p.Ser58Cys) variant details
- p.Ser58Cys
- rs121913558
- ClinGen CA210714
- ClinVar RCV000015397
- UniProt VAR 038635
- Pathogenic
- BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
- Missense
- Variant Prioritization Score for Impact Estimate 0.577
- REVEL 0.61
- MetaLR 0.25
- MetaSVM -0.58
- CADD 26.50
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Pathogenic (BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Mutational analysis of melanocortin-4 receptor, agouti-related protein, and alpha-melanocyte-stimulating hormone genes… (PMID 11487744)