G12A (p.Gly12Ala) variant of WAS (P42768)
G12A (p.Gly12Ala) in WAS (P42768) is a missense change. Clinical records from ClinVar and UniProt describe it as benign in the context of Wiskott-Aldrich syndrome; X-linked severe congenital neutropenia; Thrombocytopen. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
G12A (p.Gly12Ala) variant details
- p.Gly12Ala
- 1000Genomes rs781942437
- ExAC rs781942437
- TOPMed rs781942437
- gnomAD rs781942437
- Benign
- Wiskott-Aldrich syndrome; X-linked severe congenital neutropenia; Thrombocytopen
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.41
- CADD 13.50
- PolyPhen-2 0.00
- SIFT 0.19
- ClinVar: Benign (Wiskott-Aldrich syndrome; X-linked severe congenital neutropenia)
- UniProt: Benign
- Most common in the 1KG:CHS population (allele frequency 0.0066)
- Structural context available