C50Y (p.Cys50Tyr) variant of SLC22A5 (O76082)
C50Y (p.Cys50Tyr) 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
C50Y (p.Cys50Tyr) variant details
- p.Cys50Tyr
- UniProt VAR 079646
- Likely pathogenic
- Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.862
- REVEL 0.94
- CADD 29.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Renal carnitine transport defect)
- EBI: Pathogenic (in CDSP)
- UniProt: Pathogenic (in CDSP)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Functional and molecular studies in primary carnitine deficiency. (PMID 28841266)
- Cited in: Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary… (PMID 10072434)