I28T (p.Ile28Thr) variant of LEPR (Leptin receptor)
I28T (p.Ile28Thr) in LEPR (Leptin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
I28T (p.Ile28Thr) variant details
- p.Ile28Thr
- gnomAD 1-65570515-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.02
- CADD 8.81
- PolyPhen-2 0.00
- SIFT 0.08
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available