L270R (p.Leu270Arg) variant of CLCN5 (P51795)
L270R (p.Leu270Arg) 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 0.96 / 1. The record also includes published literature and structural context.
L270R (p.Leu270Arg) variant details
- p.Leu270Arg
- rs151340622
- ClinGen CA256079
- ClinVar RCV000012566
- UniProt VAR 001617
- Pathogenic
- Dent disease type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.965
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.95
- ClinVar: Pathogenic (Dent disease type 1)
- EBI: Pathogenic (in DENT1)
- UniProt: Pathogenic (in DENT1)
- Structural context available
- Cited in: Novel CLCN5 mutations in patients with Dent's disease result in altered ion currents or impaired exchanger processing. (PMID 19657328)
- Cited in: A common molecular basis for three inherited kidney stone diseases. (PMID 8559248)