A8R (p.Ala8Arg) variant of ARID1A (O14497)
A8R (p.Ala8Arg) in ARID1A (O14497) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
A8R (p.Ala8Arg) variant details
- p.Ala8Arg
- rs1557568922
- gnomAD 1-26696419-G-GC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.465
- CADD 25.70
- Most common in the South Asian population (allele frequency 5.3e-05)
- Structural context available
- Literature evidence available