G2R (p.Gly2Arg) variant of LDLR (Low-density lipoprotein receptor)
G2R (p.Gly2Arg) 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 Hypercholesterolemia, familial, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
G2R (p.Gly2Arg) variant details
- p.Gly2Arg
- rs5931
- ClinGen CA085719
- cosmic curated COSV52943
- ClinVar RCV000237142
- Uncertain significance
- Hypercholesterolemia, familial, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- CADD 11.70
- PolyPhen-2 0.00
- SIFT 0.37
- ClinVar: Uncertain significance (Hypercholesterolemia, familial, 1)
- EBI: Variant of uncertain significance (in dbSNP:rs5931)
- UniProt: Uncertain significance (in dbSNP:rs5931)
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Cited in: Characterization of single-nucleotide polymorphisms in coding regions of human genes. (PMID 10391209)
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)