W128C (p.Trp128Cys) variant of CLCN5 (P51795)
W128C (p.Trp128Cys) in CLCN5 (P51795) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely 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.
W128C (p.Trp128Cys) variant details
- p.Trp128Cys
- rs1933257247
- ClinGen CA413182361
- ClinVar RCV001280860
- Ensembl rs1933257247
- Likely pathogenic
- Dent disease type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.932
- AlphaMissense 1.00
- MetaLR 0.88
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.95
- ClinVar: Likely pathogenic (Dent disease type 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Dent Disease. (PMID 22876375)