S58L (p.Ser58Leu) variant of LEPR (Leptin receptor)
S58L (p.Ser58Leu) in LEPR (Leptin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
S58L (p.Ser58Leu) variant details
- p.Ser58Leu
- TOPMed rs1379819290
- gnomAD rs1379819290
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.23
- CADD 23.40
- PolyPhen-2 0.96
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available