S22R (p.Ser22Arg) variant of ARID1A (O14497)
S22R (p.Ser22Arg) in ARID1A (O14497) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
S22R (p.Ser22Arg) variant details
- p.Ser22Arg
- gnomAD 1-26696462-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.52
- CADD 27.00
- Population evidence available
- Structural context available
- Literature evidence available