Q20* (p.Gln20Ter) variant of WAS (P42768)
Q20* (p.Gln20Ter) in WAS (P42768) 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 0.55 / 1. The record also includes published literature and structural context.
Q20* (p.Gln20Ter) variant details
- p.Gln20Ter
- rs797044477
- ClinGen CA412865428
- ClinVar RCV003064718
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.554
- AlphaMissense 0.08
- MetaLR 0.90
- MetaSVM 0.47
- PolyPhen-2 0.03
- SIFT 1.00
- EVE 0.06
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: WAS-Related Disorders. (PMID 20301357)