p.Arg17 Ala20del variant of ARID1B (Q8NFD5)
p.Arg17 Ala20del in ARID1B (Q8NFD5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
p.Arg17 Ala20del variant details
- rs1157870200
- gnomAD 6-156777718-CGGCG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.713
- CADD 15.10
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available