N30Y (p.Asn30Tyr) variant of APC (Adenomatous polyposis coli protein)
N30Y (p.Asn30Tyr) 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 0.34 / 1. The record also includes structural context.
N30Y (p.Asn30Tyr) variant details
- p.Asn30Tyr
- cosmic curated COSV99965
- Ensembl rs1754795045
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.44
- ESM-1b 0.00
- AlphaMissense 0.95
- MetaLR 0.14
- MetaSVM -0.92
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available