S28R (p.Ser28Arg) variant of SLC12A3 (P55017)
S28R (p.Ser28Arg) in SLC12A3 (P55017) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Familial hypokalemia-hypomagnesemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
S28R (p.Ser28Arg) variant details
- p.Ser28Arg
- gnomAD rs1271825354
- Uncertain significance
- Familial hypokalemia-hypomagnesemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- CADD 11.60
- PolyPhen-2 0.05
- SIFT 0.34
- ClinVar: Uncertain significance (Familial hypokalemia-hypomagnesemia)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available