I161N (p.Ile161Asn) variant of LDLR (Low-density lipoprotein receptor)
I161N (p.Ile161Asn) in LDLR (Low-density lipoprotein receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hypercholesterolemia, familial, 1; Familial hypercholesterolemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
I161N (p.Ile161Asn) variant details
- p.Ile161Asn
- rs754933794
- ClinGen CA043692
- ClinVar RCV001537876
- ClinVar RCV001873808
- Likely pathogenic
- Hypercholesterolemia, familial, 1; Familial hypercholesterolemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- AlphaMissense 0.94
- MetaLR 0.98
- MetaSVM 1.04
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Hypercholesterolemia, familial, 1; Familial hypercholesterolemia)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)