S4Y (p.Ser4Tyr) variant of MC4R (Melanocortin receptor 4)
S4Y (p.Ser4Tyr) in MC4R (Melanocortin receptor 4) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions and structural context.
S4Y (p.Ser4Tyr) variant details
- p.Ser4Tyr
- ESP rs146099234
- ExAC rs146099234
- TOPMed rs146099234
- gnomAD rs146099234
- Uncertain significance
- Missense
- MetaLR 0.09
- MetaSVM -1.01
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available