E31K (p.Glu31Lys) variant of LDLR (Low-density lipoprotein receptor)
E31K (p.Glu31Lys) in LDLR (Low-density lipoprotein receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypercholesterolemia, familial, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
E31K (p.Glu31Lys) variant details
- p.Glu31Lys
- rs776421777
- ClinGen CA041752
- NCI-TCGA Cosmic COSV5294
- cosmic curated COSV52941
- Uncertain significance
- Hypercholesterolemia, familial, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- AlphaMissense 0.31
- MetaLR 0.89
- MetaSVM 0.92
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.05
- ClinVar: Uncertain significance (Hypercholesterolemia, familial, 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)
- Cited in: Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. (PMID 15177124)