A12N (p.Ala12Asn) variant of ARID1B (Q8NFD5)
A12N (p.Ala12Asn) in ARID1B (Q8NFD5) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
A12N (p.Ala12Asn) variant details
- p.Ala12Asn
- gnomAD 6-156777707-GGCGG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.387
- CADD 16.20
- Population evidence available
- Structural context available
- Literature evidence available