Discovering patterns in the pathologic significance of non-missense deleterious variants in RELA

Puntos clave

• To explore the functional implications of non-missense deleterious variants in RELA for accurate diagnosis of AD RelA deficiency.
• Analysis of non-missense variant positions in RELA.
• Assessment of functional changes associated with these variants.
• Comparison with RELA missense variants regarding functional verification.
• Non-missense deleterious variants allow precise functional change estimates.
• Missense variants require additional functional verification due to unpredictable impacts.