S31F (p.Ser31Phe) variant of APC (Adenomatous polyposis coli protein)
S31F (p.Ser31Phe) in APC (Adenomatous polyposis coli protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
S31F (p.Ser31Phe) variant details
- p.Ser31Phe
- gnomAD rs1270741856
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- REVEL 0.40
- ESM-1b 0.70
- AlphaMissense 0.97
- MetaLR 0.15
- MetaSVM -0.91
- CADD 26.40
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CDX population (allele frequency 0.017)
- Structural context available