K35* (p.Lys35Ter) variant of ARID2 (Q68CP9)
K35* (p.Lys35Ter) in ARID2 (Q68CP9) 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 0.55 / 1. The record also includes population frequency data and structural context.
K35* (p.Lys35Ter) variant details
- p.Lys35Ter
- NCI-TCGA Cosmic COSV5760
- Ensembl rs2137959592
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.547
- CADD 35.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available