L15F (p.Leu15Phe) variant of LDLR (Low-density lipoprotein receptor)
L15F (p.Leu15Phe) in LDLR (Low-density lipoprotein receptor) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Familial hypercholesterolemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
L15F (p.Leu15Phe) variant details
- p.Leu15Phe
- TOPMed rs2077057972
- Uncertain significance
- Familial hypercholesterolemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- CADD 13.90
- PolyPhen-2 0.01
- SIFT 0.29
- ClinVar: Uncertain significance (Familial hypercholesterolemia)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available