R41Q (p.Arg41Gln) variant of WAS (P42768)
R41Q (p.Arg41Gln) in WAS (P42768) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Thrombocytopenia 1; Wiskott-Aldrich syndrome; X-linked severe congenital neutrop. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
R41Q (p.Arg41Gln) variant details
- p.Arg41Gln
- NCI-TCGA Cosmic COSV6499
- Uncertain significance
- Thrombocytopenia 1; Wiskott-Aldrich syndrome; X-linked severe congenital neutrop
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- REVEL 0.72
- CADD 28.20
- PolyPhen-2 0.82
- SIFT 0.00
- ClinVar: Uncertain significance (Thrombocytopenia 1; Wiskott-Aldrich syndrome; X-linked severe co)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available