p.Pro20 Pro21del variant of ARID1A (O14497)
p.Pro20 Pro21del in ARID1A (O14497) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
p.Pro20 Pro21del variant details
- rs748085214
- gnomAD 1-26696448-CCCGCC
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.515
- CADD 20.20
- Most common in the African/African-American population (allele frequency 7.5e-05)
- Structural context available
- Literature evidence available