S21L (p.Ser21Leu) variant of APC (Adenomatous polyposis coli protein)
S21L (p.Ser21Leu) in APC (Adenomatous polyposis coli protein) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes structural context.
S21L (p.Ser21Leu) variant details
- p.Ser21Leu
- gnomAD rs1361289668
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- ESM-1b 0.00
- AlphaMissense 0.19
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available