P23R (p.Pro23Arg) variant of WAS (P42768)
P23R (p.Pro23Arg) in WAS (P42768) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
P23R (p.Pro23Arg) variant details
- p.Pro23Arg
- rs1464176187
- ClinGen CA412865520
- ClinVar RCV001706848
- ClinVar RCV002539714
- Uncertain significance
- Thrombocytopenia 1; X-linked severe congenital neutropenia; Wiskott-Aldrich synd
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- REVEL 0.50
- CADD 17.30
- PolyPhen-2 0.17
- SIFT 0.23
- ClinVar: Uncertain significance (Thrombocytopenia 1; X-linked severe congenital neutropenia; Wisk)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available
- Cited in: WAS-Related Disorders. (PMID 20301357)