G330V (p.Gly330Val) variant of CLCN5 (P51795)
G330V (p.Gly330Val) in CLCN5 (P51795) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of in DENT1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
G330V (p.Gly330Val) variant details
- p.Gly330Val
- rs151340630
- ClinGen CA341146
- ClinVar RCV000012576
- UniProt VAR 065597
- Pathogenic
- in DENT1
- Missense
- Variant Prioritization Score for Impact Estimate 0.947
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.89
- ClinVar: Pathogenic (Dent disease type 1)
- EBI: Pathogenic (in DENT1)
- UniProt: Pathogenic (in DENT1)
- Structural context available
- Cited in: Dent's disease and prevalence of renal stones in dialysis patients in Northeastern Italy. (PMID 16247550)
- Cited in: Family history may be misleading in the diagnosis of Dent's disease. (PMID 16416111)