R86C (p.Arg86Cys) variant of WAS (P42768)
R86C (p.Arg86Cys) in WAS (P42768) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Thrombocytopenia 1; X-linked severe congenital neutropenia; Wiskott-Aldrich synd. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
R86C (p.Arg86Cys) variant details
- p.Arg86Cys
- rs2062412810
- ClinGen CA412866620
- NCI-TCGA Cosmic COSV1009
- ClinVar RCV001205113
- Pathogenic
- Thrombocytopenia 1; X-linked severe congenital neutropenia; Wiskott-Aldrich synd
- Missense
- Variant Prioritization Score for Impact Estimate 0.813
- REVEL 0.95
- CADD 27.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Thrombocytopenia 1; X-linked severe congenital neutropenia; Wisk)
- EBI: Pathogenic (in WAS)
- UniProt: Pathogenic (in WAS)
- Most common in the Non-Finnish European population (allele frequency 2.4e-06)
- Structural context available
- Cited in: Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and… (PMID 10447259)
- Cited in: Identification of WASP mutations in patients with Wiskott-Aldrich syndrome and isolated thrombocytopenia reveals… (PMID 8528198)