Q4* (p.Gln4Ter) variant of SLC25A20 (O43772)
Q4* (p.Gln4Ter) in SLC25A20 (O43772) 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 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
Q4* (p.Gln4Ter) variant details
- p.Gln4Ter
- rs756998699
- ClinGen CA312985
- ClinVar RCV000186165
- ClinVar RCV000689326
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.264
- CADD 25.90
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available
- Cited in: Carnitine-Acylcarnitine Translocase Deficiency. (PMID 35862567)