A8A (p.Ala8Ala) variant of ARID1A (O14497)
A8A (p.Ala8Ala) in ARID1A (O14497) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
A8A (p.Ala8Ala) variant details
- p.Ala8Ala
- rs1339353653
- gnomAD 1-26696427-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.388
- CADD 14.20
- Most common in the South Asian population (allele frequency 2.6e-05)
- Structural context available
- Literature evidence available