E16* (p.Glu16Ter) variant of SLC6A1 (P30531)
E16* (p.Glu16Ter) in SLC6A1 (P30531) 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 0.38 / 1. The record also includes published literature and structural context.
E16* (p.Glu16Ter) variant details
- p.Glu16Ter
- rs1385319298
- ClinGen CA351788059
- ClinVar RCV003444384
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.378
- AlphaMissense 0.13
- MetaLR 0.17
- MetaSVM -0.85
- PolyPhen-2 0.99
- SIFT 0.26
- MutPred 0.27
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: SLC6A1-Related Neurodevelopmental Disorder. (PMID 36780407)