L16V (p.Leu16Val) variant of LDLR (Low-density lipoprotein receptor)
L16V (p.Leu16Val) in LDLR (Low-density lipoprotein receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypercholesterolemia, familial, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
L16V (p.Leu16Val) variant details
- p.Leu16Val
- rs2077058105
- ClinGen CA404071705
- ClinVar RCV001177803
- ClinVar RCV002505759
- Uncertain significance
- Hypercholesterolemia, familial, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.669
- CADD 9.15
- PolyPhen-2 0.07
- SIFT 0.07
- ClinVar: Uncertain significance (Hypercholesterolemia, familial, 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)
- Cited in: Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. (PMID 15177124)