N30D (p.Asn30Asp) variant of TP53 (Cellular tumor antigen p53)
N30D (p.Asn30Asp) in TP53 (Cellular tumor antigen p53) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Li-Fraumeni syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes experimental measurements and structural context.
N30D (p.Asn30Asp) variant details
- p.Asn30Asp
- Ensembl rs2151045566
- Uncertain significance
- Li-Fraumeni syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- ESM-1b 0.00
- AlphaMissense 0.07
- ClinVar: Uncertain significance (Li-Fraumeni syndrome)
- UniProt: Uncertain significance
- Structural context available
- p53 variant effect measured by cell growth: score -1.76