Q101* (p.Gln101Ter) variant of SLC25A20 (O43772)
Q101* (p.Gln101Ter) 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.
Q101* (p.Gln101Ter) variant details
- p.Gln101Ter
- rs752042051
- ClinGen CA2387442
- ClinVar RCV003625061
- ExAC rs752042051
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.85
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Carnitine-Acylcarnitine Translocase Deficiency. (PMID 35862567)