A14R (p.Ala14Arg) variant of ARID1B (Q8NFD5)
A14R (p.Ala14Arg) in ARID1B (Q8NFD5) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
A14R (p.Ala14Arg) variant details
- p.Ala14Arg
- gnomAD 6-156777718-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.708
- CADD 14.50
- Population evidence available
- Structural context available
- Literature evidence available