H211Y (p.His211Tyr) variant of LDLR (Low-density lipoprotein receptor)
H211Y (p.His211Tyr) 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 Hypercholesterolemia, familial, 1; Homozygous familial hypercholesterolemia; Fam. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
H211Y (p.His211Tyr) variant details
- p.His211Tyr
- rs771917370
- ClinGen CA044139
- ClinVar RCV000237464
- ClinVar RCV000786352
- Pathogenic/Likely pathogenic
- Hypercholesterolemia, familial, 1; Homozygous familial hypercholesterolemia; Fam
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- AlphaMissense 0.51
- MetaLR 0.86
- MetaSVM 0.92
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Hypercholesterolemia, familial, 1; Homozygous familial hyperchol)
- 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: Familial Hypercholesterolemia. (PMID 24404629)
- Cited in: Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. (PMID 15177124)