S21C (p.Ser21Cys) variant of APC (Adenomatous polyposis coli protein)
S21C (p.Ser21Cys) in APC (Adenomatous polyposis coli protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
S21C (p.Ser21Cys) variant details
- p.Ser21Cys
- rs1750606277
- gnomAD 5-112707764-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.20
- CADD 17.80
- Most common in the HGDP:PATHAN population (allele frequency 0.14)
- Structural context available
- Literature evidence available