G14A (p.Gly14Ala) variant of ARID1A (O14497)
G14A (p.Gly14Ala) in ARID1A (O14497) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
G14A (p.Gly14Ala) variant details
- p.Gly14Ala
- gnomAD 1-26696441-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.584
- CADD 24.50
- Most common in the Ashkenazi Jewish population (allele frequency 6.3e-05)
- Structural context available
- Literature evidence available