A16R (p.Ala16Arg) variant of ARID1B (Q8NFD5)
A16R (p.Ala16Arg) in ARID1B (Q8NFD5) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
A16R (p.Ala16Arg) variant details
- p.Ala16Arg
- rs1778718419
- gnomAD 6-156777716-GGCGG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.262
- CADD 16.50
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available