A20R (p.Ala20Arg) variant of ARID1B (Q8NFD5)
A20R (p.Ala20Arg) in ARID1B (Q8NFD5) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
A20R (p.Ala20Arg) variant details
- p.Ala20Arg
- gnomAD 6-156777733-CGCGG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.515
- CADD 16.10
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available