A14G (p.Ala14Gly) variant of ARID1B (Q8NFD5)
A14G (p.Ala14Gly) 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.
A14G (p.Ala14Gly) variant details
- p.Ala14Gly
- gnomAD 6-156777718-C-CG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.714
- CADD 15.30
- Population evidence available
- Structural context available
- Literature evidence available