E13K (p.Glu13Lys) variant of SLC22A5 (O76082)
E13K (p.Glu13Lys) in SLC22A5 (O76082) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Renal carnitine transport defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
E13K (p.Glu13Lys) variant details
- p.Glu13Lys
- rs553647459
- ClinGen CA3403771
- ClinVar RCV002017888
- ClinVar RCV005729693
- Uncertain significance
- Inborn genetic diseases; Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.46
- CADD 23.70
- PolyPhen-2 0.01
- SIFT 0.04
- ClinVar: Uncertain significance (Inborn genetic diseases; Renal carnitine transport defect)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:PEL population (allele frequency 0.012)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)