M1T (p.Met1Thr) variant of SLC22A5 (O76082)
M1T (p.Met1Thr) in SLC22A5 (O76082) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Renal carnitine transport defect; Carnitine deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes published literature and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs1554085885
- ClinGen CA360802180
- ClinVar RCV001383928
- Pathogenic/Likely pathogenic
- Renal carnitine transport defect; Carnitine deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.577
- MetaLR 0.55
- MetaSVM 0.20
- PolyPhen-2 0.97
- SIFT 0.00
- MutPred 0.99
- ClinVar: Pathogenic/Likely pathogenic (Renal carnitine transport defect; Carnitine deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Primary Carnitine Deficiency. (PMID 22420015)