T48T (p.Thr48Thr) variant of LEP (Leptin)
T48T (p.Thr48Thr) in LEP (Leptin) is a protein-truncating change. 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.
T48T (p.Thr48Thr) variant details
- p.Thr48Thr
- rs1800583
- gnomAD 7-128252162-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.643
- CADD 22.70
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00085)
- Structural context available
- Cited in: Resistance to antidepressant treatment is associated with polymorphisms in the leptin gene, decreased leptin mRNA… (PMID 23026132)