I121T (p.Ile121Thr) variant of MC4R (Melanocortin receptor 4)
I121T (p.Ile121Thr) in MC4R (Melanocortin receptor 4) is a missense change. Clinical records from ClinVar, EBI, 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 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
I121T (p.Ile121Thr) variant details
- p.Ile121Thr
- ExAC rs13447330
- TOPMed rs13447330
- gnomAD rs13447330
- UniProt VAR 091286
- Likely pathogenic
- Early onset severe obesity
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.39
- MetaLR 0.15
- MetaSVM -0.86
- CADD 24.20
- PolyPhen-2 0.59
- SIFT 0.00
- ClinVar: Likely pathogenic (Early onset severe obesity)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Melanocortin-4 receptor gene: case-control study and transmission disequilibrium test confirm that functionally… (PMID 12970296)