H211L (p.His211Leu) variant of LDLR (Low-density lipoprotein receptor)
H211L (p.His211Leu) 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 Cardiovascular phenotype; Familial hypercholesterolemia; Hypercholesterolemia, f. 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.
H211L (p.His211Leu) variant details
- p.His211Leu
- rs879254603
- ClinGen CA10585025
- ClinVar RCV000238558
- ClinVar RCV000587367
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Familial hypercholesterolemia; Hypercholesterolemia, f
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- AlphaMissense 1.00
- MetaLR 0.29
- MetaSVM -0.37
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Familial hypercholesterolemia; Hyperch)
- EBI: Pathogenic (in FHCL1)
- UniProt: Pathogenic (in FHCL1)
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Cited in: Diagnosis of families with familial hypercholesterolaemia and/or Apo B-100 defect by means of DNA analysis of… (PMID 17347910)
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)