W11* (p.Trp11Ter) variant of SLC18A2 (Q05940)
W11* (p.Trp11Ter) in SLC18A2 (Q05940) 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 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
W11* (p.Trp11Ter) variant details
- p.Trp11Ter
- rs2133723906
- ClinGen CA378507231
- ClinVar RCV001767860
- ClinVar RCV004576996
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.699
- CADD 42.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals. (PMID 36318270)