p.Ser12dup variant of ARID1A (O14497)
p.Ser12dup in ARID1A (O14497) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
p.Ser12dup variant details
- gnomAD 1-26696432-C-CCAG
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.664
- CADD 19.60
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available
- Literature evidence available