R4A (p.Arg4Ala) variant of ARID1B (Q8NFD5)
R4A (p.Arg4Ala) in ARID1B (Q8NFD5) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
R4A (p.Arg4Ala) variant details
- p.Arg4Ala
- gnomAD 6-156777686-CGCGC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.408
- CADD 16.90
- Population evidence available
- Structural context available
- Literature evidence available