A19V (p.Ala19Val) variant of LDLR (Low-density lipoprotein receptor)
A19V (p.Ala19Val) in LDLR (Low-density lipoprotein receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Familial hypercholesterolemia; not provided; Hypercholesterolemia, familial, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
A19V (p.Ala19Val) variant details
- p.Ala19Val
- rs879254392
- ClinGen CA10584735
- ClinVar RCV000237997
- ClinVar RCV001182217
- Conflicting interpretations
- Familial hypercholesterolemia; not provided; Hypercholesterolemia, familial, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- AlphaMissense 0.15
- MetaLR 0.47
- MetaSVM -0.56
- CADD 4.26
- PolyPhen-2 0.01
- SIFT 0.06
- ClinVar: Conflicting classifications of pathogenicity (Familial hypercholesterolemia; not provided; Hypercholesterolemi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)
- Cited in: Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. (PMID 15177124)