G14R (p.Gly14Arg) variant of WAS (P42768)
G14R (p.Gly14Arg) 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; Wiskott-Aldrich syndrome; X-linked severe congenital neutrop. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
G14R (p.Gly14Arg) variant details
- p.Gly14Arg
- rs797044476
- ClinGen CA162669
- ClinVar RCV000122263
- ClinVar RCV001854677
- Uncertain significance
- Thrombocytopenia 1; Wiskott-Aldrich syndrome; X-linked severe congenital neutrop
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.39
- CADD 14.10
- PolyPhen-2 0.14
- SIFT 0.08
- ClinVar: Uncertain significance (Thrombocytopenia 1; Wiskott-Aldrich syndrome; X-linked severe co)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 6.5e-05)
- Structural context available
- Cited in: WAS-Related Disorders. (PMID 20301357)