D21N (p.Asp21Asn) variant of TP53 (Cellular tumor antigen p53)
D21N (p.Asp21Asn) 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 0.50 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D21N (p.Asp21Asn) variant details
- p.Asp21Asn
- Ensembl rs2151047361
- Uncertain significance
- Li-Fraumeni syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.57
- ESM-1b 0.56
- AlphaMissense 0.12
- CADD 23.70
- PolyPhen-2 0.78
- SIFT 0.06
- ClinVar: Uncertain significance (Li-Fraumeni syndrome)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.0015)
- Structural context available
- p53 variant effect measured by cell growth: score -3.41