A13P (p.Ala13Pro) variant of SLC12A3 (P55017)
A13P (p.Ala13Pro) in SLC12A3 (P55017) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Familial hypokalemia-hypomagnesemia; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
A13P (p.Ala13Pro) variant details
- p.Ala13Pro
- rs147200024
- ClinGen CA8068895
- cosmic curated COSV10806
- ClinVar RCV000681930
- Conflicting interpretations
- not provided; Familial hypokalemia-hypomagnesemia; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- CADD 1.08
- PolyPhen-2 0.00
- SIFT 0.83
- ClinVar: Conflicting classifications of pathogenicity (not provided; Familial hypokalemia-hypomagnesemia; Inborn geneti)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:PUR population (allele frequency 0.0051)
- Structural context available
- Cited in: Clinical utility gene card for: Gitelman syndrome. (PMID 21343949)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)