C113Y (p.Cys113Tyr) variant of SLC22A5 (O76082)
C113Y (p.Cys113Tyr) 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 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
C113Y (p.Cys113Tyr) variant details
- p.Cys113Tyr
- rs727504159
- ClinGen CA234950
- ClinVar RCV000153959
- ClinVar RCV000411999
- Pathogenic/Likely pathogenic
- Carnitine deficiency; not provided; Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.897
- REVEL 0.97
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Carnitine deficiency; not provided; Renal carnitine transport de)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:HAN population (allele frequency 0.015)
- Structural context available
- Cited in: Primary Carnitine Deficiency. (PMID 22420015)