P7T (p.Pro7Thr) variant of ARID1A (O14497)
P7T (p.Pro7Thr) in ARID1A (O14497) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
P7T (p.Pro7Thr) variant details
- p.Pro7Thr
- gnomAD 1-26696418-CGCCCC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.632
- CADD 26.70
- Most common in the Finnish in Finland (FIN) population (allele frequency 4.2e-05)
- Structural context available
- Literature evidence available