G15W (p.Gly15Trp) variant of SLC22A5 (O76082)
G15W (p.Gly15Trp) in SLC22A5 (O76082) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Carnitine deficiency; not provided; Renal carnitine transport defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
G15W (p.Gly15Trp) variant details
- p.Gly15Trp
- rs267607052
- ClinGen CA312963
- ClinVar RCV000006798
- ClinVar RCV000186150
- Pathogenic/Likely pathogenic
- Carnitine deficiency; not provided; Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.856
- REVEL 0.95
- AlphaMissense 0.96
- MetaLR 0.86
- MetaSVM 1.01
- CADD 32.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Carnitine deficiency; not provided; Renal carnitine transport de)
- EBI: Pathogenic (in CDSP)
- UniProt: Pathogenic (in CDSP)
- Most common in the HGDP:BALOCHI population (allele frequency 0.022)
- Structural context available
- Cited in: Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular… (PMID 20027113)
- Cited in: Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine… (PMID 20574985)