P70S (p.Pro70Ser) variant of LEPR (Leptin receptor)
P70S (p.Pro70Ser) in LEPR (Leptin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of LEPR-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
P70S (p.Pro70Ser) variant details
- p.Pro70Ser
- 1000Genomes rs531684351
- ExAC rs531684351
- gnomAD rs531684351
- Uncertain significance
- LEPR-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.04
- CADD 8.09
- PolyPhen-2 0.00
- SIFT 0.37
- ClinVar: Uncertain significance (LEPR-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.3e-05)
- Structural context available