W617C (p.Trp617Cys) variant of CLCN5 (P51795)
W617C (p.Trp617Cys) 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 0.93 / 1. The record also includes published literature and structural context.
W617C (p.Trp617Cys) variant details
- p.Trp617Cys
- rs1934041295
- ClinGen CA413189122
- ClinVar RCV001195723
- Ensembl rs1934041295
- Pathogenic
- Dent disease type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.925
- AlphaMissense 0.97
- MetaLR 0.95
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.72
- ClinVar: Pathogenic (Dent disease type 1)
- EBI: Pathogenic (in DENT1)
- UniProt: Pathogenic (in DENT1)
- Structural context available
- Cited in: Dent Disease. (PMID 22876375)