S4F (p.Ser4Phe) variant of MC4R (Melanocortin receptor 4)
S4F (p.Ser4Phe) 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 not provided; Early onset severe obesity. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
S4F (p.Ser4Phe) variant details
- p.Ser4Phe
- rs146099234
- ClinGen CA8981009
- ClinVar RCV003402957
- ClinVar RCV006444088
- Uncertain significance
- not provided; Early onset severe obesity
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.04
- MetaLR 0.09
- MetaSVM -1.02
- CADD 20.30
- PolyPhen-2 0.02
- SIFT 0.07
- ClinVar: Uncertain significance (not provided; Early onset severe obesity)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00039)
- Structural context available