R852L (p.Arg852Leu) variant of SLC12A3 (P55017)
R852L (p.Arg852Leu) 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 0.75 / 1. The record also includes population frequency data and structural context.
R852L (p.Arg852Leu) variant details
- p.Arg852Leu
- ExAC rs751929135
- gnomAD rs751929135
- Likely pathogenic
- Familial hypokalemia-hypomagnesemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.75
- CADD 23.80
- PolyPhen-2 0.99
- SIFT 0.64
- ClinVar: Likely pathogenic (Familial hypokalemia-hypomagnesemia)
- EBI: Pathogenic (in GTLMNS)
- UniProt: Pathogenic (in GTLMNS)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available