S590P (p.Ser590Pro) variant of CLCN5 (P51795)
S590P (p.Ser590Pro) 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 0.97 / 1. The record also includes published literature and structural context.
S590P (p.Ser590Pro) variant details
- p.Ser590Pro
- rs151340623
- ClinGen CA256083
- ClinVar RCV000012567
- UniProt VAR 001622
- Pathogenic
- Dent disease type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.968
- AlphaMissense 0.99
- MetaLR 0.95
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.97
- ClinVar: Pathogenic (Dent disease type 1)
- EBI: Pathogenic (in DENT1)
- UniProt: Pathogenic (in DENT1)
- Structural context available
- Cited in: A common molecular basis for three inherited kidney stone diseases. (PMID 8559248)
- Cited in: Evidence for genetic heterogeneity in Dent's disease. (PMID 15086899)