S272P (p.Ser272Pro) variant of WAS (P42768)
S272P (p.Ser272Pro) in WAS (P42768) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Wiskott-Aldrich syndrome; Thrombocytopenia 1; X-linked severe congenital neutrop. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes published literature and structural context.
S272P (p.Ser272Pro) variant details
- p.Ser272Pro
- rs387906716
- ClinGen CA281101
- ClinVar RCV000022858
- ClinVar RCV003764631
- Likely pathogenic
- Wiskott-Aldrich syndrome; Thrombocytopenia 1; X-linked severe congenital neutrop
- Missense
- Variant Prioritization Score for Impact Estimate 0.669
- AlphaMissense 0.94
- MetaLR 0.63
- MetaSVM 0.40
- PolyPhen-2 0.99
- SIFT 0.06
- EVE 0.58
- ClinVar: Likely pathogenic (Wiskott-Aldrich syndrome; Thrombocytopenia 1; X-linked severe co)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Two novel activating mutations in the Wiskott-Aldrich syndrome protein result in congenital neutropenia. (PMID 16804117)
- Cited in: WAS-Related Disorders. (PMID 20301357)