S314L (p.Ser314Leu) variant of CLCN5 (P51795)
S314L (p.Ser314Leu) in CLCN5 (P51795) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of CLCN5-related disorder; X-linked recessive nephrolithiasis with renal failure; H. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
S314L (p.Ser314Leu) variant details
- p.Ser314Leu
- rs151340626
- ClinGen CA341144
- ClinVar RCV000012570
- ClinVar RCV000192274
- Pathogenic
- CLCN5-related disorder; X-linked recessive nephrolithiasis with renal failure; H
- Missense
- Variant Prioritization Score for Impact Estimate 0.874
- REVEL 0.96
- MetaLR 0.92
- MetaSVM 1.06
- CADD 26.90
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (CLCN5-related disorder; X-linked recessive nephrolithiasis with)
- EBI: Pathogenic (in XLHRR)
- UniProt: Pathogenic (in XLHRR)
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Evidence for genetic heterogeneity in Dent's disease. (PMID 15086899)
- Cited in: Family history may be misleading in the diagnosis of Dent's disease. (PMID 16416111)