Y358N (p.Tyr358Asn) variant of SLC22A5 (O76082)
Y358N (p.Tyr358Asn) in SLC22A5 (O76082) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Renal carnitine transport defect; Carnitine deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
Y358N (p.Tyr358Asn) variant details
- p.Tyr358Asn
- rs61731073
- ClinGen CA3404073
- ClinVar RCV000807405
- UniProt VAR 064139
- Pathogenic/Likely pathogenic
- Renal carnitine transport defect; Carnitine deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.816
- REVEL 0.91
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Renal carnitine transport defect; Carnitine deficiency)
- EBI: Pathogenic (in CDSP)
- UniProt: Pathogenic (in CDSP)
- Most common in the 1KG:PEL population (allele frequency 0.0059)
- Structural context available
- Cited in: Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine… (PMID 20574985)
- Cited in: Functional and molecular studies in primary carnitine deficiency. (PMID 28841266)