Y4* (p.Tyr4Ter) variant of SLC22A5 (O76082)
Y4* (p.Tyr4Ter) in SLC22A5 (O76082) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
Y4* (p.Tyr4Ter) variant details
- p.Tyr4Ter
- rs72552722
- ClinGen CA342604
- ClinVar RCV000022293
- ClinVar RCV003398556
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.834
- CADD 42.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 5.8e-05)
- Structural context available
- Cited in: Recessive mutations in NDUFA2 cause mitochondrial leukoencephalopathy. (PMID 28857146)
- Cited in: Primary Carnitine Deficiency. (PMID 22420015)