N30S (p.Asn30Ser) variant of TP53 (Cellular tumor antigen p53)
N30S (p.Asn30Ser) in TP53 (Cellular tumor antigen p53) 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 0.27 / 1. The record also includes experimental measurements and structural context.
N30S (p.Asn30Ser) variant details
- p.Asn30Ser
- Ensembl rs2151045549
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- ESM-1b 0.00
- AlphaMissense 0.07
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- p53 variant effect measured by cell growth: score -1.76