Q254P (p.Gln254Pro) variant of LDLR (Low-density lipoprotein receptor)
Q254P (p.Gln254Pro) 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 Homozygous familial hypercholesterolemia; Dyslipidemia; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
Q254P (p.Gln254Pro) variant details
- p.Gln254Pro
- rs879254667
- ClinGen CA10585117
- ClinVar RCV000237699
- ClinVar RCV000844739
- Pathogenic/Likely pathogenic
- Homozygous familial hypercholesterolemia; Dyslipidemia; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- CADD 26.90
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Homozygous familial hypercholesterolemia; Dyslipidemia; Cardiova)
- EBI: Pathogenic (in FHCL1)
- UniProt: Pathogenic (in FHCL1)
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available
- Cited in: Clinical expression of familial hypercholesterolemia in clusters of mutations of the LDL receptor gene that cause a… (PMID 10978268)
- Cited in: The molecular basis of familial hypercholesterolemia in Lebanon: spectrum of LDLR mutations and role of PCSK9 as a… (PMID 19319977)