P478L (p.Pro478Leu) variant of SLC22A5 (O76082)
P478L (p.Pro478Leu) 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; Renal carnitine transport defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
P478L (p.Pro478Leu) variant details
- p.Pro478Leu
- rs72552735
- ClinGen CA340584
- NCI-TCGA Cosmic COSV5537
- cosmic curated COSV55374
- Pathogenic/Likely pathogenic
- Carnitine deficiency; Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- REVEL 0.74
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Carnitine deficiency; Renal carnitine transport defect)
- EBI: Pathogenic (in CDSP)
- UniProt: Pathogenic (in CDSP)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary… (PMID 10072434)
- Cited in: Functional characteristics and tissue distribution pattern of organic cation transporter 2 (OCTN2), an organic… (PMID 10454528)