S5C (p.Ser5Cys) variant of APC (Adenomatous polyposis coli protein)
S5C (p.Ser5Cys) in APC (Adenomatous polyposis coli protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
S5C (p.Ser5Cys) variant details
- p.Ser5Cys
- gnomAD 5-112707728-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.17
- CADD 12.80
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available
- Literature evidence available