R145H (p.Arg145His) variant of SLC12A3 (P55017)
R145H (p.Arg145His) in SLC12A3 (P55017) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Familial hypokalemia-hypomagnesemia; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
R145H (p.Arg145His) variant details
- p.Arg145His
- rs374324018
- ClinGen CA8069035
- ClinVar RCV000778471
- ClinVar RCV001379908
- Pathogenic/Likely pathogenic
- not provided; Familial hypokalemia-hypomagnesemia; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.629
- AlphaMissense 0.59
- MetaLR 0.24
- MetaSVM -0.71
- CADD 29.90
- PolyPhen-2 0.83
- SIFT 0.04
- ClinVar: Pathogenic/Likely pathogenic (not provided; Familial hypokalemia-hypomagnesemia; Inborn geneti)
- EBI: Pathogenic (in GTLMNS)
- UniProt: Pathogenic (in GTLMNS)
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: Novel mutations in the SLC12A3 gene causing Gitelman's syndrome in Swedes. (PMID 17654016)
- Cited in: Clinical utility gene card for: Gitelman syndrome. (PMID 21343949)