P349L (p.Pro349Leu) variant of SLC12A3 (P55017)
P349L (p.Pro349Leu) in SLC12A3 (P55017) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Renal tubular acidosis; not provided; Familial hypokalemia-hypomagnesemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
P349L (p.Pro349Leu) variant details
- p.Pro349Leu
- rs121909383
- ClinGen CA119776
- NCI-TCGA Cosmic COSV9934
- cosmic curated COSV99344
- Pathogenic/Likely pathogenic
- Renal tubular acidosis; not provided; Familial hypokalemia-hypomagnesemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Renal tubular acidosis; not provided; Familial hypokalemia-hypom)
- EBI: Pathogenic (in GTLMNS)
- UniProt: Pathogenic (in GTLMNS)
- Most common in the African/African-American population (allele frequency 9e-05)
- Structural context available
- Cited in: Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the… (PMID 8528245)
- Cited in: Novel molecular variants of the Na-Cl cotransporter gene are responsible for Gitelman syndrome. (PMID 8900229)