A11G (p.Ala11Gly) variant of ARID1B (Q8NFD5)
A11G (p.Ala11Gly) in ARID1B (Q8NFD5) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
A11G (p.Ala11Gly) variant details
- p.Ala11Gly
- gnomAD 6-156777705-GCGGC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.265
- CADD 16.40
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available