T45A (p.Thr45Ala) variant of SLC22A5 (O76082)
T45A (p.Thr45Ala) 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 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
T45A (p.Thr45Ala) variant details
- p.Thr45Ala
- rs376438682
- ClinGen CA3403795
- ClinVar RCV000635352
- ClinVar RCV002226476
- Uncertain significance
- Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.30
- CADD 15.30
- PolyPhen-2 0.01
- SIFT 0.10
- ClinVar: Uncertain significance (Renal carnitine transport defect)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available
- Cited in: Primary Carnitine Deficiency. (PMID 22420015)