S36Y (p.Ser36Tyr) variant of MC4R (Melanocortin receptor 4)
S36Y (p.Ser36Tyr) in MC4R (Melanocortin receptor 4) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes published literature and structural context.
S36Y (p.Ser36Tyr) variant details
- p.Ser36Tyr
- UniProt VAR 038633
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Prevalence of mutations and functional analyses of melanocortin 4 receptor variants identified among 750 men with… (PMID 15486053)