T8I (p.Thr8Ile) variant of SLC22A5 (O76082)
T8I (p.Thr8Ile) 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 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
T8I (p.Thr8Ile) variant details
- p.Thr8Ile
- rs923600059
- ClinGen CA127196062
- ClinVar RCV003078161
- gnomAD rs923600059
- Uncertain significance
- Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.24
- CADD 21.30
- PolyPhen-2 0.05
- SIFT 0.08
- ClinVar: Uncertain significance (Renal carnitine transport defect)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Primary Carnitine Deficiency. (PMID 22420015)