L401V (p.Leu401Val) variant of LDLR (Low-density lipoprotein receptor)
L401V (p.Leu401Val) in LDLR (Low-density lipoprotein receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Dyslipidemia; Cardiovascular phenotype; Familial hypercholesterolemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
L401V (p.Leu401Val) variant details
- p.Leu401Val
- rs146200173
- ClinGen CA023432
- ClinVar RCV000238417
- ClinVar RCV000255176
- Pathogenic/Likely pathogenic
- Dyslipidemia; Cardiovascular phenotype; Familial hypercholesterolemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- CADD 24.40
- PolyPhen-2 0.68
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Dyslipidemia; Cardiovascular phenotype; Familial hypercholestero)
- EBI: Pathogenic (in FHCL1)
- UniProt: Pathogenic (in FHCL1)
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Cited in: Molecular genetics of familial hypercholesterolaemia in Norway. (PMID 9104431)
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)