S36T (p.Ser36Thr) variant of MC4R (Melanocortin receptor 4)
S36T (p.Ser36Thr) in MC4R (Melanocortin receptor 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of MC4R-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
S36T (p.Ser36Thr) variant details
- p.Ser36Thr
- TOPMed rs954123325
- gnomAD rs954123325
- Uncertain significance
- MC4R-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.113
- REVEL 0.04
- MetaLR 0.07
- MetaSVM -0.99
- CADD 13.20
- PolyPhen-2 0.00
- SIFT 0.20
- ClinVar: Uncertain significance (MC4R-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- Structural context available