L10F (p.Leu10Phe) variant of LEP (Leptin)
L10F (p.Leu10Phe) in LEP (Leptin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; LEP-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
L10F (p.Leu10Phe) variant details
- p.Leu10Phe
- rs775874401
- ClinGen CA4469620
- ClinVar RCV001919322
- ClinVar RCV003401898
- Uncertain significance
- not provided; LEP-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.35
- CADD 22.50
- PolyPhen-2 1.00
- SIFT 0.05
- ClinVar: Uncertain significance (not provided; LEP-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available