M1I (p.Met1Ile) variant of SLC22A5 (O76082)
M1I (p.Met1Ile) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes published literature and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs121908892
- ClinGen CA340588
- ClinVar RCV000006794
- Pathogenic/Likely pathogenic
- Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- MetaLR 0.44
- MetaSVM 0.07
- PolyPhen-2 0.85
- SIFT 0.10
- MutPred 1.00
- ClinVar: Pathogenic/Likely pathogenic (Renal carnitine transport defect)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 gene. (PMID 15714519)
- Cited in: Primary Carnitine Deficiency. (PMID 22420015)