A18V (p.Ala18Val) variant of LDLR (Low-density lipoprotein receptor)
A18V (p.Ala18Val) in LDLR (Low-density lipoprotein receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Hypercholesterolemia, familial, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes published literature and structural context.
A18V (p.Ala18Val) variant details
- p.Ala18Val
- rs1057519651
- ClinGen CA16602290
- ClinVar RCV000417268
- Ensembl rs1057519651
- Likely benign
- Hypercholesterolemia, familial, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- AlphaMissense 0.15
- MetaLR 0.50
- MetaSVM -0.43
- PolyPhen-2 0.01
- SIFT 0.53
- MutPred 0.42
- ClinVar: Likely benign (Hypercholesterolemia, familial, 1)
- EBI: Likely benign
- UniProt: Likely benign
- 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)