G15R (p.Gly15Arg) variant of SLC22A5 (O76082)
G15R (p.Gly15Arg) 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 0.90 / 1. The record also includes published literature and structural context.
G15R (p.Gly15Arg) variant details
- p.Gly15Arg
- rs267607052
- ClinGen CA360802262
- ClinVar RCV003616440
- NCI-TCGA Cosmic COSV9981
- Likely pathogenic
- Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.904
- AlphaMissense 0.96
- MetaLR 0.86
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.87
- ClinVar: Likely pathogenic (Renal carnitine transport defect)
- EBI: Likely pathogenic (in CDSP)
- UniProt: Likely pathogenic (in CDSP)
- Structural context available
- Cited in: Primary Carnitine Deficiency. (PMID 22420015)