V63M (p.Val63Met) variant of SLC12A3 (P55017)
V63M (p.Val63Met) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
V63M (p.Val63Met) variant details
- p.Val63Met
- ExAC rs773670898
- TOPMed rs773670898
- gnomAD rs773670898
- Uncertain significance
- Familial hypokalemia-hypomagnesemia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- CADD 19.50
- PolyPhen-2 0.06
- SIFT 0.06
- ClinVar: Uncertain significance (Familial hypokalemia-hypomagnesemia; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available