S21S (p.Ser21Ser) variant of APC (Adenomatous polyposis coli protein)
S21S (p.Ser21Ser) in APC (Adenomatous polyposis coli protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
S21S (p.Ser21Ser) variant details
- p.Ser21Ser
- rs980704771
- gnomAD 5-112707765-T-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.122
- CADD 5.77
- Most common in the HGDP:SARDINIAN population (allele frequency 0.056)
- Structural context available
- Cited in: Reduced expression of APC-1B but not APC-1A by the deletion of promoter 1B is responsible for familial adenomatous… (PMID 27217144)