A14del (p.Ala14del) variant of ARID1B (Q8NFD5)
A14del (p.Ala14del) 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.
A14del (p.Ala14del) variant details
- rs557453022
- gnomAD 6-156777692-GGCA-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.299
- CADD 17.50
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available
- Literature evidence available