E23* (p.Glu23Ter) variant of ARID1A (O14497)
E23* (p.Glu23Ter) in ARID1A (O14497) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
E23* (p.Glu23Ter) variant details
- p.Glu23Ter
- rs1557569082
- ClinGen CA339264314
- ClinVar RCV000722667
- ClinVar RCV004723138
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.794
- CADD 36.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available