G127V (p.Gly127Val) variant of CLCN5 (P51795)
G127V (p.Gly127Val) in CLCN5 (P51795) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of X-linked recessive nephrolithiasis with renal failure. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
G127V (p.Gly127Val) variant details
- p.Gly127Val
- rs151340629
- ClinGen CA121693
- ClinVar RCV002468923
- UniProt VAR 001616
- Pathogenic
- X-linked recessive nephrolithiasis with renal failure
- Missense
- Variant Prioritization Score for Impact Estimate 0.849
- AlphaMissense 0.99
- MetaLR 0.83
- MetaSVM 0.76
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.81
- ClinVar: Pathogenic (X-linked recessive nephrolithiasis with renal failure)
- EBI: Pathogenic (in DENT1)
- UniProt: Pathogenic (in DENT1)
- Structural context available
- Cited in: Characterization of Dent's disease mutations of CLC-5 reveals a correlation between functional and cell biological… (PMID 19019917)
- Cited in: Characterisation of renal chloride channel, CLCN5, mutations in hypercalciuric nephrolithiasis (kidney stones)… (PMID 9259268)