T11A (p.Thr11Ala) variant of MC4R (Melanocortin receptor 4)
T11A (p.Thr11Ala) in MC4R (Melanocortin receptor 4) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
T11A (p.Thr11Ala) variant details
- p.Thr11Ala
- rs372794914
- ClinGen CA8981000
- ClinVar RCV001174413
- ClinVar RCV002483937
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.03
- MetaLR 0.04
- MetaSVM -1.00
- CADD 15.20
- PolyPhen-2 0.00
- SIFT 0.63
- EBI: Benign
- UniProt: Benign
- Most common in the REMAINING population (allele frequency 0.0002)
- Structural context available
- Cited in: Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene. (PMID 12646665)
- Cited in: Obesity due to MC4R deficiency is associated with reduced cholesterol, triglycerides and cardiovascular disease risk. (PMID 41102563)