S11A (p.Ser11Ala) variant of ARID1A (O14497)
S11A (p.Ser11Ala) 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.
S11A (p.Ser11Ala) variant details
- p.Ser11Ala
- rs797045262
- gnomAD 1-26696421-CCCCGC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.476
- CADD 26.70
- Most common in the Ashkenazi Jewish population (allele frequency 6.4e-05)
- Structural context available
- Cited in: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American… (PMID 25741868)
- Cited in: Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. (PMID 22426308)