S11L (p.Ser11Leu) variant of ARID1A (O14497)
S11L (p.Ser11Leu) 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.
S11L (p.Ser11Leu) variant details
- p.Ser11Leu
- gnomAD 1-26696422-CCCGCC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.475
- CADD 26.60
- Most common in the Ashkenazi Jewish population (allele frequency 6.4e-05)
- Structural context available
- Literature evidence available