P18C (p.Pro18Cys) variant of ARID1A (O14497)
P18C (p.Pro18Cys) in ARID1A (O14497) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
P18C (p.Pro18Cys) variant details
- p.Pro18Cys
- gnomAD 1-26696453-C-CTT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.467
- CADD 27.60
- Population evidence available
- Structural context available
- Literature evidence available