P21del (p.Pro21del) variant of ARID1A (O14497)
P21del (p.Pro21del) in ARID1A (O14497) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
P21del (p.Pro21del) variant details
- rs748085214
- gnomAD 1-26696448-CCCG-C
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.479
- CADD 15.90
- Most common in the South Asian population (allele frequency 0.0088)
- Structural context available
- Literature evidence available