Q33* (p.Gln33Ter) variant of LDLR (Low-density lipoprotein receptor)
Q33* (p.Gln33Ter) in LDLR (Low-density lipoprotein receptor) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
Q33* (p.Gln33Ter) variant details
- p.Gln33Ter
- rs121908024
- ClinGen CA023802
- ClinVar RCV000003868
- ClinVar RCV000786350
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.576
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available
- Cited in: Deletion in the first cysteine-rich repeat of low density lipoprotein receptor impairs its transport but not… (PMID 3263645)
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)