E132* (p.Glu132Ter) variant of SLC25A20 (O43772)
E132* (p.Glu132Ter) 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 0.88 / 1. The record also includes published literature and structural context.
E132* (p.Glu132Ter) variant details
- p.Glu132Ter
- rs769748915
- ClinGen CA73992035
- ClinVar RCV003624597
- ExAC rs769748915
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.885
- AlphaMissense 0.99
- MetaLR 0.83
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.85
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Carnitine-Acylcarnitine Translocase Deficiency. (PMID 35862567)