M161T (p.Met161Thr) variant of MC4R (Melanocortin receptor 4)
M161T (p.Met161Thr) 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 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
M161T (p.Met161Thr) variant details
- p.Met161Thr
- ExAC rs746906443
- gnomAD rs746906443
- UniProt VAR 091197
- Likely pathogenic
- Early onset severe obesity
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.49
- MetaLR 0.16
- MetaSVM -0.76
- CADD 25.50
- PolyPhen-2 0.76
- SIFT 0.02
- ClinVar: Likely pathogenic (Early onset severe obesity)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Obesity due to MC4R deficiency is associated with reduced cholesterol, triglycerides and cardiovascular disease risk. (PMID 41102563)