T53I (p.Thr53Ile) variant of MC4R (Melanocortin receptor 4)
T53I (p.Thr53Ile) in MC4R (Melanocortin receptor 4) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
T53I (p.Thr53Ile) variant details
- p.Thr53Ile
- rs141148170
- ESP rs141148170
- ExAC rs141148170
- gnomAD rs141148170
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.06
- MetaLR 0.04
- MetaSVM -1.10
- CADD 22.00
- PolyPhen-2 0.01
- SIFT 0.28
- 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: Obesity due to MC4R deficiency is associated with reduced cholesterol, triglycerides and cardiovascular disease risk. (PMID 41102563)