G565V (p.Gly565Val) variant of LDLR (Low-density lipoprotein receptor)
G565V (p.Gly565Val) 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 Dyslipidemia; Homozygous familial hypercholesterolemia; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes published literature and structural context.
G565V (p.Gly565Val) variant details
- p.Gly565Val
- rs28942082
- ClinGen CA023553
- ClinVar RCV000003874
- ClinVar RCV000791454
- Pathogenic/Likely pathogenic
- Dyslipidemia; Homozygous familial hypercholesterolemia; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.799
- AlphaMissense 0.52
- MetaLR 0.92
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.62
- ClinVar: Pathogenic/Likely pathogenic (Dyslipidemia; Homozygous familial hypercholesterolemia; Cardiova)
- EBI: Pathogenic (in FHCL1)
- UniProt: Pathogenic (in FHCL1)
- Structural context available
- Cited in: Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. (PMID 1301956)
- Cited in: Transport-deficient mutations in the low density lipoprotein receptor. Alterations in the cysteine-rich and… (PMID 2901412)