W283R (p.Trp283Arg) variant of SLC22A5 (O76082)
W283R (p.Trp283Arg) in SLC22A5 (O76082) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Carnitine deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
W283R (p.Trp283Arg) variant details
- p.Trp283Arg
- rs72552729
- ClinGen CA342662
- ClinVar RCV001924005
- UniProt VAR 009254
- Likely pathogenic
- Carnitine deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.793
- REVEL 0.88
- CADD 30.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Carnitine deficiency)
- EBI: Pathogenic (in CDSP)
- UniProt: Pathogenic (in CDSP)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Two novel missense mutations of the OCTN2 gene (W283R and V446F) in a patient with primary systemic carnitine… (PMID 10612840)
- Cited in: Genotype-phenotype correlation in primary carnitine deficiency. (PMID 21922592)