G127R (p.Gly127Arg) variant of CLCN5 (P51795)
G127R (p.Gly127Arg) 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 0.89 / 1. The record also includes published literature and structural context.
G127R (p.Gly127Arg) variant details
- p.Gly127Arg
- rs782720805
- ClinGen CA413182350
- ClinVar RCV001843320
- ExAC rs782720805
- Likely pathogenic
- Dent disease type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.888
- AlphaMissense 0.87
- MetaLR 0.85
- MetaSVM 0.87
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Dent disease type 1)
- EBI: Likely pathogenic (in DENT1)
- UniProt: Likely pathogenic (in DENT1)
- Structural context available
- Cited in: Dent Disease. (PMID 22876375)