P17R (p.Pro17Arg) variant of ARID1A (O14497)
P17R (p.Pro17Arg) in ARID1A (O14497) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
P17R (p.Pro17Arg) variant details
- p.Pro17Arg
- gnomAD 1-26696450-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.694
- CADD 23.50
- Most common in the Non-Finnish European population (allele frequency 2.2e-06)
- Structural context available
- Literature evidence available