S30F (p.Ser30Phe) variant of MC4R (Melanocortin receptor 4)
S30F (p.Ser30Phe) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
S30F (p.Ser30Phe) variant details
- p.Ser30Phe
- rs13447323
- ClinGen CA8980989
- ClinVar RCV003417105
- ClinVar RCV006616892
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.14
- MetaLR 0.07
- MetaSVM -1.06
- CADD 22.00
- PolyPhen-2 0.01
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available
- Cited in: Several mutations in the melanocortin-4 receptor gene including a nonsense and a frameshift mutation associated with… (PMID 10199800)
- Cited in: Melanocortin-4 receptor gene: case-control study and transmission disequilibrium test confirm that functionally… (PMID 12970296)