N30K (p.Asn30Lys) variant of TP53 (Cellular tumor antigen p53)
N30K (p.Asn30Lys) in TP53 (Cellular tumor antigen p53) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes experimental measurements and structural context.
N30K (p.Asn30Lys) variant details
- p.Asn30Lys
- cosmic curated COSV53166
- ESP rs370992294
- ExAC rs370992294
- TOPMed rs370992294
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- ESM-1b 0.00
- AlphaMissense 0.19
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- p53 variant effect measured by cell growth: score -1.76