A2A (p.Ala2Ala) variant of ARID1A (O14497)
A2A (p.Ala2Ala) in ARID1A (O14497) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
A2A (p.Ala2Ala) variant details
- p.Ala2Ala
- gnomAD 1-26696409-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.526
- CADD 14.20
- Most common in the East Asian population (allele frequency 3.9e-05)
- Structural context available
- Literature evidence available