E368G (p.Glu368Gly) variant of SLC12A1 (Q13621)
E368G (p.Glu368Gly) 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; Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
E368G (p.Glu368Gly) variant details
- p.Glu368Gly
- rs1567314296
- ClinGen CA392308487
- ClinVar RCV001909397
- ClinVar RCV002246590
- Pathogenic/Likely pathogenic
- Bartter disease type 1; Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- REVEL 0.97
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Bartter disease type 1; Inborn genetic diseases; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)