p.Arg15 Ala53del variant of ARID1B (Q8NFD5)
p.Arg15 Ala53del in ARID1B (Q8NFD5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
p.Arg15 Ala53del variant details
- rs1778716003
- gnomAD 6-156777701-GGCGG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.333
- CADD 16.70
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available