Q41* (p.Gln41Ter) variant of SLC25A20 (O43772)
Q41* (p.Gln41Ter) 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 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
Q41* (p.Gln41Ter) variant details
- p.Gln41Ter
- rs1575992941
- ClinGen CA352637664
- ClinVar RCV003472838
- Ensembl rs1575992941
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.854
- CADD 37.00
- SIFT 0.33
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Cited in: Carnitine-Acylcarnitine Translocase Deficiency. (PMID 35862567)