K98* (p.Lys98Ter) variant of SLC25A20 (O43772)
K98* (p.Lys98Ter) in SLC25A20 (O43772) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
K98* (p.Lys98Ter) variant details
- p.Lys98Ter
- rs1553686321
- ClinGen CA352634302
- ClinVar RCV000532365
- Ensembl rs1553686321
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Carnitine-Acylcarnitine Translocase Deficiency. (PMID 35862567)