S12S (p.Ser12Ser) variant of ARID1A (O14497)
S12S (p.Ser12Ser) in ARID1A (O14497) is a synonymous 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.
S12S (p.Ser12Ser) variant details
- p.Ser12Ser
- rs112262001
- gnomAD 1-26696439-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.387
- CADD 14.40
- Most common in the REMAINING population (allele frequency 0.00099)
- Structural context available
- Literature evidence available