W12* (p.Trp12Ter) variant of ASXL3 (Q9C0F0)
W12* (p.Trp12Ter) in ASXL3 (Q9C0F0) 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 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
W12* (p.Trp12Ter) variant details
- p.Trp12Ter
- rs2511301336
- ClinGen CA402269292
- ClinVar RCV003130454
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.636
- CADD 38.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: ASXL3-Related Disorder. (PMID 33151654)