A44E (p.Ala44Glu) variant of SLC22A5 (O76082)
A44E (p.Ala44Glu) in SLC22A5 (O76082) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Renal carnitine transport defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
A44E (p.Ala44Glu) variant details
- p.Ala44Glu
- rs199689597
- ClinGen CA3403794
- ClinVar RCV002928099
- ExAC rs199689597
- Uncertain significance
- Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.52
- CADD 6.02
- PolyPhen-2 0.07
- SIFT 0.12
- ClinVar: Uncertain significance (Renal carnitine transport defect)
- EBI: Likely pathogenic (in CDSP)
- UniProt: Likely pathogenic (in CDSP)
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Cited in: Primary Carnitine Deficiency. (PMID 22420015)