R13Q (p.Arg13Gln) variant of WAS (P42768)
R13Q (p.Arg13Gln) in WAS (P42768) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Thrombocytopenia 1; Wiskott-Aldrich syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
R13Q (p.Arg13Gln) variant details
- p.Arg13Gln
- rs1440423616
- ClinGen CA412865286
- NCI-TCGA Cosmic COSV6499
- ClinVar RCV003438236
- Conflicting interpretations
- not provided; Thrombocytopenia 1; Wiskott-Aldrich syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.44
- CADD 20.80
- PolyPhen-2 0.01
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (not provided; Thrombocytopenia 1; Wiskott-Aldrich syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 3.3e-05)
- Structural context available
- Cited in: WAS-Related Disorders. (PMID 20301357)