F33L (p.Phe33Leu) variant of LEPR (Leptin receptor)
F33L (p.Phe33Leu) in LEPR (Leptin receptor) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
F33L (p.Phe33Leu) variant details
- p.Phe33Leu
- ExAC rs771516633
- TOPMed rs771516633
- gnomAD rs771516633
- NCI-TCGA TCGA novel
- Variant assessed as somatic; high impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.47
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.04
- UniProt: Variant assessed as somatic; high impact.
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available