C37S (p.Cys37Ser) variant of LEPR (Leptin receptor)
C37S (p.Cys37Ser) in LEPR (Leptin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
C37S (p.Cys37Ser) variant details
- p.Cys37Ser
- gnomAD 1-65570542-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.747
- REVEL 0.73
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available