Y211C (p.Tyr211Cys) variant of SLC22A5 (O76082)
Y211C (p.Tyr211Cys) 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 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
Y211C (p.Tyr211Cys) variant details
- p.Tyr211Cys
- rs121908888
- ClinGen CA312941
- ClinVar RCV000006789
- ClinVar RCV000186136
- Pathogenic/Likely pathogenic
- Carnitine deficiency; not provided; Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- REVEL 0.85
- CADD 29.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Carnitine deficiency; not provided; Renal carnitine transport de)
- EBI: Pathogenic (in CDSP)
- UniProt: Pathogenic (in CDSP)
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Cited in: Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency. (PMID 10480371)
- Cited in: Primary carnitine deficiency. (PMID 2199596)