L215F (p.Leu215Phe) variant of SLC12A3 (P55017)
L215F (p.Leu215Phe) in SLC12A3 (P55017) is a missense change. Clinical records from ClinVar 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 0.35 / 1. The record also includes population frequency data and structural context.
L215F (p.Leu215Phe) variant details
- p.Leu215Phe
- ExAC rs756754842
- gnomAD rs756754842
- Likely pathogenic
- Familial hypokalemia-hypomagnesemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- CADD 20.60
- PolyPhen-2 0.99
- SIFT 1.00
- ClinVar: Likely pathogenic (Familial hypokalemia-hypomagnesemia)
- UniProt: Likely pathogenic (in GTLMNS)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available