E30G (p.Glu30Gly) variant of SLC12A3 (P55017)
E30G (p.Glu30Gly) in SLC12A3 (P55017) is a missense change. Clinical records from ClinVar, EBI, 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 0.58 / 1. The record also includes population frequency data and structural context.
E30G (p.Glu30Gly) variant details
- p.Glu30Gly
- ExAC rs757461294
- TOPMed rs757461294
- gnomAD rs757461294
- Uncertain significance
- Familial hypokalemia-hypomagnesemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- CADD 22.20
- PolyPhen-2 0.10
- SIFT 0.12
- ClinVar: Uncertain significance (Familial hypokalemia-hypomagnesemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available