A18R (p.Ala18Arg) variant of ARID1B (Q8NFD5)
A18R (p.Ala18Arg) in ARID1B (Q8NFD5) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
A18R (p.Ala18Arg) variant details
- p.Ala18Arg
- gnomAD 6-156777730-G-GGC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.597
- CADD 14.10
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available
- Literature evidence available