S74L (p.Ser74Leu) variant of LEPR (Leptin receptor)
S74L (p.Ser74Leu) in LEPR (Leptin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
S74L (p.Ser74Leu) variant details
- p.Ser74Leu
- gnomAD 1-65570653-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.03
- CADD 15.20
- PolyPhen-2 0.00
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available