I488N (p.Ile488Asn) variant of LDLR (Low-density lipoprotein receptor)
I488N (p.Ile488Asn) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
I488N (p.Ile488Asn) variant details
- p.Ile488Asn
- rs879254913
- ClinGen CA10585466
- ClinVar RCV000237707
- ClinVar RCV000781505
- Likely pathogenic
- Hypercholesterolemia, familial, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- AlphaMissense 0.97
- MetaLR 0.96
- MetaSVM 1.10
- CADD 28.60
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Likely pathogenic (Hypercholesterolemia, familial, 1)
- 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)