V797M (p.Val797Met) variant of LDLR (Low-density lipoprotein receptor)
V797M (p.Val797Met) 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 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
V797M (p.Val797Met) variant details
- p.Val797Met
- rs750518671
- ClinGen CA040347
- ClinVar RCV000211628
- ClinVar RCV000497399
- Pathogenic/Likely pathogenic
- Dyslipidemia; Homozygous familial hypercholesterolemia; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- CADD 25.40
- PolyPhen-2 0.09
- SIFT 0.14
- ClinVar: Pathogenic/Likely pathogenic (Dyslipidemia; Homozygous familial hypercholesterolemia; 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: Presence and type of low density lipoprotein receptor (LDLR) mutation influences the lipid profile and response to… (PMID 24529145)
- Cited in: Recurrent and novel LDL receptor gene mutations causing heterozygous familial hypercholesterolemia in La Habana. (PMID 7649549)