R57T (p.Arg57Thr) variant of SLC12A1 (Q13621)
R57T (p.Arg57Thr) in SLC12A1 (Q13621) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Bartter disease type 1; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
R57T (p.Arg57Thr) variant details
- p.Arg57Thr
- rs141683652
- ClinGen CA7546698
- ClinVar RCV002701793
- ClinVar RCV005002983
- Conflicting interpretations
- not provided; Bartter disease type 1; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- REVEL 0.54
- MetaLR 0.65
- MetaSVM 0.39
- CADD 20.30
- PolyPhen-2 0.03
- SIFT 0.14
- ClinVar: Conflicting classifications of pathogenicity (not provided; Bartter disease type 1; Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- 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)