A4S (p.Ala4Ser) variant of APC (Adenomatous polyposis coli protein)
A4S (p.Ala4Ser) in APC (Adenomatous polyposis coli protein) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
A4S (p.Ala4Ser) variant details
- p.Ala4Ser
- rs774219012
- ClinGen CA16021356
- cosmic curated COSV57388
- ClinVar RCV000562185
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.54
- MetaLR 0.14
- MetaSVM -0.96
- CADD 24.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:SARDINIAN population (allele frequency 0.056)
- Structural context available
- Cited in: Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal… (PMID 11598466)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)