M75T (p.Met75Thr) variant of LEP (Leptin)
M75T (p.Met75Thr) in LEP (Leptin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
M75T (p.Met75Thr) variant details
- p.Met75Thr
- gnomAD 7-128254483-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.521
- REVEL 0.52
- CADD 23.20
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available