I69T (p.Ile69Thr) variant of MC4R (Melanocortin receptor 4)
I69T (p.Ile69Thr) in MC4R (Melanocortin receptor 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Early onset severe obesity. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
I69T (p.Ile69Thr) variant details
- p.Ile69Thr
- ExAC rs751160202
- gnomAD rs751160202
- UniProt VAR 091170
- Conflicting interpretations
- not provided; Early onset severe obesity
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- REVEL 0.59
- AlphaMissense 0.99
- MetaLR 0.13
- MetaSVM -0.68
- CADD 26.40
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Early onset severe obesity)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 3.9e-05)
- Structural context available
- Cited in: Obesity due to MC4R deficiency is associated with reduced cholesterol, triglycerides and cardiovascular disease risk. (PMID 41102563)