E13* (p.Glu13Ter) variant of SLC22A5 (O76082)
E13* (p.Glu13Ter) in SLC22A5 (O76082) 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 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
E13* (p.Glu13Ter) variant details
- p.Glu13Ter
- rs553647459
- ClinGen CA360802249
- ClinVar RCV001380634
- 1000Genomes rs553647459
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.561
- CADD 39.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Primary Carnitine Deficiency. (PMID 22420015)