G478R (p.Gly478Arg) variant of SLC12A1 (Q13621)
G478R (p.Gly478Arg) in SLC12A1 (Q13621) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Bartter disease type 1; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data and structural context.
G478R (p.Gly478Arg) variant details
- p.Gly478Arg
- rs758166864
- ExAC rs758166864
- TOPMed rs758166864
- gnomAD rs758166864
- Pathogenic/Likely pathogenic
- Bartter disease type 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.897
- REVEL 0.95
- MetaLR 0.98
- MetaSVM 1.04
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Bartter disease type 1; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Ashkenazi Jewish population (allele frequency 0.00058)
- Structural context available