G335S (p.Gly335Ser) variant of LDLR (Low-density lipoprotein receptor)
G335S (p.Gly335Ser) in LDLR (Low-density lipoprotein receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hypercholesterolemia, familial, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
G335S (p.Gly335Ser) variant details
- p.Gly335Ser
- rs544453230
- ClinGen CA023402
- ClinVar RCV000161976
- ClinVar RCV000215066
- Likely pathogenic
- Hypercholesterolemia, familial, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.79
- AlphaMissense 0.97
- MetaLR 0.97
- MetaSVM 1.10
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Hypercholesterolemia, familial, 1)
- EBI: Pathogenic (in FHCL1)
- UniProt: Pathogenic (in FHCL1)
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- Cited in: Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. (PMID 1301956)
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)