L25P (p.Leu25Pro) variant of SLC12A3 (P55017)
L25P (p.Leu25Pro) 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 0.62 / 1. The record also includes population frequency data and structural context.
L25P (p.Leu25Pro) variant details
- p.Leu25Pro
- TOPMed rs1964324677
- Uncertain significance
- Familial hypokalemia-hypomagnesemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.624
- CADD 24.10
- PolyPhen-2 1.00
- SIFT 0.05
- ClinVar: Uncertain significance (Familial hypokalemia-hypomagnesemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.3e-05)
- Structural context available