P608L (p.Pro608Leu) variant of LDLR (Low-density lipoprotein receptor)
P608L (p.Pro608Leu) 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 Dyslipidemia; Cardiovascular phenotype; Familial hypercholesterolemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
P608L (p.Pro608Leu) variant details
- p.Pro608Leu
- rs879255035
- ClinGen CA10585631
- ClinVar RCV000238385
- ClinVar RCV003581632
- Uncertain significance
- Dyslipidemia; Cardiovascular phenotype; Familial hypercholesterolemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.966
- AlphaMissense 0.94
- MetaLR 0.98
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Uncertain significance (Hypercholesterolemia, familial, 1)
- EBI: Pathogenic (in FHCL1)
- UniProt: Pathogenic (in FHCL1)
- Structural context available
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)
- Cited in: Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. (PMID 15177124)