S270F (p.Ser270Phe) variant of MC4R (Melanocortin receptor 4)
S270F (p.Ser270Phe) in MC4R (Melanocortin receptor 4) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Early onset severe obesity. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
S270F (p.Ser270Phe) variant details
- p.Ser270Phe
- TOPMed rs752424263
- gnomAD rs752424263
- Likely pathogenic
- Early onset severe obesity
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.15
- MetaLR 0.13
- MetaSVM -1.05
- CADD 24.90
- PolyPhen-2 0.97
- SIFT 0.06
- ClinVar: Likely pathogenic (Early onset severe obesity)
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available