M1R (p.Met1Arg) variant of SLC22A5 (O76082)
M1R (p.Met1Arg) 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 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
M1R (p.Met1Arg) variant details
- p.Met1Arg
- rs1554085885
- ClinGen CA360802179
- ClinVar RCV000672799
- Likely pathogenic
- Renal carnitine transport defect
- 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: Likely pathogenic (Renal carnitine transport defect)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Primary Carnitine Deficiency. (PMID 22420015)