A27T (p.Ala27Thr) variant of SLC22A5 (O76082)
A27T (p.Ala27Thr) 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 0.43 / 1. The record also includes published literature and structural context.
A27T (p.Ala27Thr) variant details
- p.Ala27Thr
- rs1254960526
- ClinGen CA360802337
- ClinVar RCV003086535
- Uncertain significance
- Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- AlphaMissense 0.17
- MetaLR 0.47
- MetaSVM -0.12
- PolyPhen-2 0.11
- SIFT 0.05
- EVE 0.32
- 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)