V797L (p.Val797Leu) variant of LDLR (Low-density lipoprotein receptor)
V797L (p.Val797Leu) 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 Dyslipidemia; Cardiovascular phenotype; Familial hypercholesterolemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
V797L (p.Val797Leu) variant details
- p.Val797Leu
- rs750518671
- ClinGen CA404096927
- ClinVar RCV000685681
- ClinVar RCV002458198
- Conflicting interpretations
- Dyslipidemia; Cardiovascular phenotype; Familial hypercholesterolemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- CADD 25.10
- PolyPhen-2 0.01
- SIFT 0.33
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Familial hypercholesterolemia)
- EBI: Pathogenic (in FHCL1)
- UniProt: Pathogenic (in FHCL1)
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)
- Cited in: Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. (PMID 15177124)