L850P (p.Leu850Pro) variant of SLC12A3 (P55017)
L850P (p.Leu850Pro) in SLC12A3 (P55017) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of SLC12A3-related disorder; Renal tubulopathies; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
L850P (p.Leu850Pro) variant details
- p.Leu850Pro
- rs121909379
- ClinGen CA250046
- ClinVar RCV000009115
- ClinVar RCV000805008
- Pathogenic/Likely pathogenic
- SLC12A3-related disorder; Renal tubulopathies; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.657
- CADD 28.80
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (SLC12A3-related disorder; Renal tubulopathies; Inborn genetic di)
- EBI: Pathogenic (in GTLMNS)
- UniProt: Pathogenic (in GTLMNS)
- Most common in the Latino/Admixed American population (allele frequency 0.00092)
- Structural context available
- Cited in: Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome. (PMID 22009145)
- Cited in: Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the… (PMID 8528245)