T45R (p.Thr45Arg) variant of WAS (P42768)
T45R (p.Thr45Arg) in WAS (P42768) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of WAS-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes structural context.
T45R (p.Thr45Arg) variant details
- p.Thr45Arg
- rs132630273
- ClinGen CA412866047
- ClinVar RCV003934432
- Likely pathogenic
- WAS-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.852
- AlphaMissense 0.62
- MetaLR 0.98
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.68
- ClinVar: Likely pathogenic (WAS-related disorder)
- EBI: Likely pathogenic (in WAS and THC1)
- UniProt: Likely pathogenic (in WAS and THC1)
- Structural context available