C291R (p.Cys291Arg) variant of CLCN5 (P51795)
C291R (p.Cys291Arg) in CLCN5 (P51795) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hypophosphatemic rickets, X-linked recessive; Proteinuria, low molecular weight. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
C291R (p.Cys291Arg) variant details
- p.Cys291Arg
- rs1933713383
- ClinGen CA413184317
- ClinVar RCV001328283
- ClinVar RCV002480886
- Likely pathogenic
- Hypophosphatemic rickets, X-linked recessive; Proteinuria, low molecular weight
- Missense
- Variant Prioritization Score for Impact Estimate 0.942
- AlphaMissense 1.00
- MetaLR 0.91
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.93
- ClinVar: Likely pathogenic (Hypophosphatemic rickets, X-linked recessive; Proteinuria, low m)
- EBI: Pathogenic (in DENT1)
- UniProt: Pathogenic (in DENT1)
- Structural context available
- Cited in: Evidence for genetic heterogeneity in Dent's disease. (PMID 15086899)
- Cited in: Novel CLCN5 mutations in patients with Dent's disease result in altered ion currents or impaired exchanger processing. (PMID 19657328)