A10L (p.Ala10Leu) variant of ARID1A (O14497)
A10L (p.Ala10Leu) in ARID1A (O14497) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
A10L (p.Ala10Leu) variant details
- p.Ala10Leu
- gnomAD 1-26696422-CCCGCC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.475
- CADD 26.50
- Population evidence available
- Structural context available
- Literature evidence available