E13D (p.Glu13Asp) variant of SLC22A5 (O76082)
E13D (p.Glu13Asp) 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 0.37 / 1. The record also includes published literature and structural context.
E13D (p.Glu13Asp) variant details
- p.Glu13Asp
- rs1561560357
- ClinGen CA360802254
- ClinVar RCV000703190
- Ensembl rs1561560357
- Uncertain significance
- Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- AlphaMissense 0.14
- MetaLR 0.35
- MetaSVM -0.59
- PolyPhen-2 0.00
- SIFT 0.15
- EVE 0.16
- ClinVar: Uncertain significance (Renal carnitine transport defect)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Primary Carnitine Deficiency. (PMID 22420015)