S82P (p.Ser82Pro) variant of WAS (P42768)
S82P (p.Ser82Pro) in WAS (P42768) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
S82P (p.Ser82Pro) variant details
- p.Ser82Pro
- rs132630272
- ClinGen CA121359
- ClinVar RCV000011871
- ClinVar RCV001509116
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.94
- AlphaMissense 0.99
- MetaLR 0.97
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.82
- ClinVar: Likely pathogenic (not provided)
- EBI: Pathogenic (in WAS)
- UniProt: Pathogenic (in WAS)
- Structural context available
- Cited in: A diagnostic assay for the Wiskott-Aldrich syndrome and its variant forms. (PMID 7735919)
- Cited in: Identification of WASP mutations in patients with Wiskott-Aldrich syndrome and isolated thrombocytopenia reveals… (PMID 8528198)