A19E (p.Ala19Glu) variant of LDLR (Low-density lipoprotein receptor)
A19E (p.Ala19Glu) 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 not specified; Hypercholesterolemia, familial, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
A19E (p.Ala19Glu) variant details
- p.Ala19Glu
- rs879254392
- ClinGen CA10584734
- ClinVar RCV000237342
- ClinVar RCV005890972
- Uncertain significance
- not specified; Hypercholesterolemia, familial, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- AlphaMissense 0.15
- MetaLR 0.47
- MetaSVM -0.56
- CADD 3.15
- PolyPhen-2 0.01
- SIFT 0.06
- ClinVar: Uncertain significance (not specified; 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)