P685L (p.Pro685Leu) variant of LDLR (Low-density lipoprotein receptor)
P685L (p.Pro685Leu) 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; Cardiovascular phenotype; Dyslipidemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
P685L (p.Pro685Leu) variant details
- p.Pro685Leu
- rs28942084
- ClinGen CA023628
- ClinVar RCV000003891
- ClinVar RCV000162007
- Pathogenic/Likely pathogenic
- Homozygous familial hypercholesterolemia; Cardiovascular phenotype; Dyslipidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- AlphaMissense 0.86
- MetaLR 0.96
- MetaSVM 1.10
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Homozygous familial hypercholesterolemia; Cardiovascular phenoty)
- EBI: Pathogenic (in FHCL1)
- UniProt: Pathogenic (in FHCL1)
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available
- Cited in: Identification and properties of the proline664-leucine mutant LDL receptor in South Africans of Indian origin. (PMID 1464748)
- Cited in: Detection of the Pro664-Leu mutation in the low-density lipoprotein receptor and its relation to lipoprotein(a) levels… (PMID 1493640)