p.Ala14dup variant of ARID1B (Q8NFD5)
p.Ala14dup in ARID1B (Q8NFD5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
p.Ala14dup variant details
- gnomAD 6-156777692-G-GGC
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.302
- CADD 17.90
- Population evidence available
- Structural context available
- Literature evidence available