R34R (p.Arg34Arg) variant of WAS (P42768)
R34R (p.Arg34Arg) in WAS (P42768) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
R34R (p.Arg34Arg) variant details
- p.Arg34Arg
- rs132630271
- gnomAD X-48683953-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.564
- CADD 13.40
- Most common in the East Asian population (allele frequency 3.3e-05)
- Structural context available
- Cited in: Identification of mutations in the Wiskott-Aldrich syndrome gene and characterization of a polymorphic dinucleotide… (PMID 7753869)