G326R (p.Gly326Arg) variant of CLCN5 (P51795)
G326R (p.Gly326Arg) in CLCN5 (P51795) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Dent disease type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
G326R (p.Gly326Arg) variant details
- p.Gly326Arg
- rs2147594126
- ClinGen CA413184908
- ClinVar RCV001580334
- Ensembl rs2147594126
- Pathogenic
- Dent disease type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.919
- AlphaMissense 1.00
- MetaLR 0.90
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.87
- ClinVar: Pathogenic (Dent disease type 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Dent Disease. (PMID 22876375)