P58R (p.Pro58Arg) variant of WAS (P42768)
P58R (p.Pro58Arg) in WAS (P42768) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of THROMBOCYTOPENIA, X-LINKED, INTERMITTENT. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes published literature and structural context.
P58R (p.Pro58Arg) variant details
- p.Pro58Arg
- rs132630275
- ClinGen CA121361
- ClinVar RCV000011875
- UniProt VAR 033255
- Pathogenic
- THROMBOCYTOPENIA, X-LINKED, INTERMITTENT
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- AlphaMissense 0.19
- MetaLR 0.97
- MetaSVM 1.17
- PolyPhen-2 1.00
- SIFT 0.44
- MutPred 0.86
- ClinVar: Pathogenic (THROMBOCYTOPENIA, X-LINKED, INTERMITTENT)
- EBI: Pathogenic (in THC1)
- UniProt: Pathogenic (in THC1)
- Structural context available
- Cited in: Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia. (PMID 11877312)
- Cited in: Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and… (PMID 10447259)