P349S (p.Pro349Ser) variant of SLC12A3 (P55017)
P349S (p.Pro349Ser) in SLC12A3 (P55017) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Familial hypokalemia-hypomagnesemia; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
P349S (p.Pro349Ser) variant details
- p.Pro349Ser
- rs1335601482
- ClinGen CA395983843
- ClinVar RCV003562049
- Pathogenic/Likely pathogenic
- Familial hypokalemia-hypomagnesemia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.769
- CADD 24.70
- PolyPhen-2 0.95
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (Familial hypokalemia-hypomagnesemia; not provided)
- EBI: Pathogenic (in GTLMNS)
- UniProt: Pathogenic (in GTLMNS)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available