G343V (p.Gly343Val) variant of LDLR (Low-density lipoprotein receptor)
G343V (p.Gly343Val) 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 0.94 / 1. The record also includes published literature and structural context.
G343V (p.Gly343Val) variant details
- p.Gly343Val
- rs879254760
- ClinGen CA404082758
- ClinVar RCV000508849
- ClinVar RCV005239109
- Likely pathogenic
- Hypercholesterolemia, familial, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.936
- AlphaMissense 0.80
- MetaLR 0.98
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.94
- ClinVar: Likely pathogenic (Hypercholesterolemia, familial, 1)
- EBI: Likely pathogenic (in FHCL1)
- UniProt: Likely pathogenic (in FHCL1)
- Structural context available
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)
- Cited in: Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. (PMID 15177124)