G37R (p.Gly37Arg) variant of LDLR (Low-density lipoprotein receptor)
G37R (p.Gly37Arg) 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 Familial hypercholesterolemia; Hypercholesterolemia, familial, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
G37R (p.Gly37Arg) variant details
- p.Gly37Arg
- rs2077193497
- ClinGen CA404074711
- cosmic curated COSV52943
- ClinVar RCV001187877
- Uncertain significance
- Familial hypercholesterolemia; Hypercholesterolemia, familial, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.761
- CADD 26.20
- PolyPhen-2 0.78
- SIFT 0.01
- ClinVar: Uncertain significance (Familial hypercholesterolemia; Hypercholesterolemia, familial, 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)
- Cited in: Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. (PMID 15177124)