A303T (p.Ala303Thr) variant of MC4R (Melanocortin receptor 4)
A303T (p.Ala303Thr) 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 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
A303T (p.Ala303Thr) variant details
- p.Ala303Thr
- ExAC rs762251697
- gnomAD rs762251697
- UniProt VAR 091233
- Likely pathogenic
- Early onset severe obesity
- Missense
- Variant Prioritization Score for Impact Estimate 0.644
- REVEL 0.65
- MetaLR 0.25
- MetaSVM -0.63
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Early onset severe obesity)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Obesity due to MC4R deficiency is associated with reduced cholesterol, triglycerides and cardiovascular disease risk. (PMID 41102563)