R25G (p.Arg25Gly) variant of ARID1B (Q8NFD5)
R25G (p.Arg25Gly) 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.
R25G (p.Arg25Gly) variant details
- p.Arg25Gly
- gnomAD 6-156777752-ACGGC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.26
- CADD 16.50
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available
- Literature evidence available