T24I (p.Thr24Ile) variant of SLC12A3 (P55017)
T24I (p.Thr24Ile) in SLC12A3 (P55017) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Familial hypokalemia-hypomagnesemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
T24I (p.Thr24Ile) variant details
- p.Thr24Ile
- rs759549058
- ClinGen CA8068904
- ClinVar RCV002245158
- ExAC rs759549058
- Likely pathogenic
- Familial hypokalemia-hypomagnesemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.602
- CADD 19.00
- PolyPhen-2 0.23
- SIFT 0.08
- ClinVar: Likely pathogenic (Familial hypokalemia-hypomagnesemia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available
- Cited in: Clinical utility gene card for: Gitelman syndrome. (PMID 21343949)