M1V (p.Met1Val) variant of SLC22A5 (O76082)
M1V (p.Met1Val) in SLC22A5 (O76082) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 population frequency data, published literature, and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs774971089
- ClinGen CA3403763
- ClinVar RCV000669076
- 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: Pathogenic (Renal carnitine transport defect)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Primary Carnitine Deficiency. (PMID 22420015)