G576E (p.Gly576Glu) variant of CLCN5 (P51795)
G576E (p.Gly576Glu) in CLCN5 (P51795) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of X-linked recessive nephrolithiasis with renal failure. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
G576E (p.Gly576Glu) variant details
- p.Gly576Glu
- rs151340625
- ClinGen CA121680
- ClinVar RCV002266901
- ClinVar RCV002468922
- Pathogenic
- X-linked recessive nephrolithiasis with renal failure
- Missense
- Variant Prioritization Score for Impact Estimate 0.981
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.95
- ClinVar: Pathogenic (X-linked recessive nephrolithiasis with renal failure)
- EBI: Pathogenic (in XRN)
- UniProt: Pathogenic (in XRN)
- Structural context available
- Cited in: A common molecular basis for three inherited kidney stone diseases. (PMID 8559248)
- Cited in: Dent Disease. (PMID 22876375)