N30K (p.Asn30Lys) variant of APC (Adenomatous polyposis coli protein)
N30K (p.Asn30Lys) in APC (Adenomatous polyposis coli protein) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes structural context.
N30K (p.Asn30Lys) variant details
- p.Asn30Lys
- Ensembl rs2149738295
- NCI-TCGA TCGA novel
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- ESM-1b 0.00
- AlphaMissense 0.99
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- UniProt: Uncertain significance
- Structural context available