p.Ala13 Ala14del variant of ARID1B (Q8NFD5)
p.Ala13 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.
p.Ala13 Ala14del variant details
- rs557453022
- gnomAD 6-156777692-GGCAG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.299
- CADD 17.50
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available