M1L (p.Met1Leu) variant of SLC22A5 (O76082)
M1L (p.Met1Leu) in SLC22A5 (O76082) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Renal carnitine transport defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes published literature and structural context.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs774971089
- ClinGen CA360802177
- ClinVar RCV000670455
- Likely pathogenic
- Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- MetaLR 0.31
- MetaSVM -0.37
- PolyPhen-2 0.47
- SIFT 0.03
- MutPred 0.98
- ClinVar: Likely pathogenic (Renal carnitine transport defect)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Primary Carnitine Deficiency. (PMID 22420015)