A19G (p.Ala19Gly) variant of LDLR (Low-density lipoprotein receptor)
A19G (p.Ala19Gly) 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 Familial hypercholesterolemia; Hypercholesterolemia, familial, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes published literature and structural context.
A19G (p.Ala19Gly) variant details
- p.Ala19Gly
- rs879254392
- ClinGen CA404071816
- ClinVar RCV001524830
- ClinVar RCV004808083
- Uncertain significance
- Familial hypercholesterolemia; Hypercholesterolemia, familial, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- AlphaMissense 0.15
- MetaLR 0.47
- MetaSVM -0.56
- PolyPhen-2 0.01
- SIFT 0.06
- MutPred 0.46
- ClinVar: Uncertain significance (Familial hypercholesterolemia; Hypercholesterolemia, familial, 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)
- Cited in: Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. (PMID 15177124)