S5A (p.Ser5Ala) variant of APC (Adenomatous polyposis coli protein)
S5A (p.Ser5Ala) in APC (Adenomatous polyposis coli protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
S5A (p.Ser5Ala) variant details
- p.Ser5Ala
- rs2149630527
- gnomAD 5-112707736-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.19
- CADD 21.90
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available
- Literature evidence available