R26K (p.Arg26Lys) variant of LDLR (Low-density lipoprotein receptor)
R26K (p.Arg26Lys) 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 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
R26K (p.Arg26Lys) variant details
- p.Arg26Lys
- rs1240034669
- ClinGen CA404074593
- ClinVar RCV004008182
- gnomAD rs1240034669
- Uncertain significance
- Hypercholesterolemia, familial, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.0839
- CADD 0.82
- PolyPhen-2 0.00
- SIFT 0.97
- ClinVar: Uncertain significance (Hypercholesterolemia, familial, 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available
- Cited in: Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. (PMID 15177124)
- Cited in: Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients: clinical guidance… (PMID 21600525)