T45N (p.Thr45Asn) variant of SLC22A5 (O76082)
T45N (p.Thr45Asn) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes published literature and structural context.
T45N (p.Thr45Asn) variant details
- p.Thr45Asn
- rs1751834531
- ClinGen CA360802443
- ClinVar RCV002306118
- ClinVar RCV003102287
- Uncertain significance
- Renal carnitine transport defect; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- AlphaMissense 0.18
- MetaLR 0.35
- MetaSVM -0.75
- PolyPhen-2 0.00
- SIFT 0.33
- EVE 0.20
- ClinVar: Uncertain significance (Renal carnitine transport defect; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Primary Carnitine Deficiency. (PMID 22420015)