V40E (p.Val40Glu) variant of SLC22A5 (O76082)
V40E (p.Val40Glu) 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 0.88 / 1. The record also includes published literature and structural context.
V40E (p.Val40Glu) variant details
- p.Val40Glu
- rs1561560593
- ClinGen CA360802415
- ClinVar RCV000697982
- Ensembl rs1561560593
- Uncertain significance
- Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.878
- AlphaMissense 0.93
- MetaLR 0.88
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.76
- 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)