G20R (p.Gly20Arg) variant of LDLR (Low-density lipoprotein receptor)
G20R (p.Gly20Arg) in LDLR (Low-density lipoprotein receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Hypercholesterolemia, familial, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
G20R (p.Gly20Arg) variant details
- p.Gly20Arg
- rs147509697
- ClinGen CA023728
- ClinVar RCV000161949
- ClinVar RCV000211611
- Benign
- Hypercholesterolemia, familial, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- CADD 14.60
- PolyPhen-2 0.10
- SIFT 0.15
- ClinVar: Benign (Hypercholesterolemia, familial, 1)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)
- Cited in: Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. (PMID 15177124)