A13R (p.Ala13Arg) variant of ARID1B (Q8NFD5)
A13R (p.Ala13Arg) in ARID1B (Q8NFD5) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
A13R (p.Ala13Arg) variant details
- p.Ala13Arg
- gnomAD 6-156777715-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.267
- CADD 15.10
- Population evidence available
- Structural context available
- Literature evidence available