R37* (p.Arg37Ter) variant of SLC25A20 (O43772)
R37* (p.Arg37Ter) 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 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
R37* (p.Arg37Ter) variant details
- p.Arg37Ter
- rs776288377
- ClinGen CA2387492
- ClinVar RCV003875170
- ExAC rs776288377
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.741
- CADD 36.00
- SIFT 0.01
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available
- Cited in: Carnitine-Acylcarnitine Translocase Deficiency. (PMID 35862567)