N29S (p.Asn29Ser) variant of TP53 (Cellular tumor antigen p53)
N29S (p.Asn29Ser) 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 0.41 / 1. The record also includes population frequency data, experimental measurements, and structural context.
N29S (p.Asn29Ser) variant details
- p.Asn29Ser
- Ensembl rs2073506642
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.34
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.97
- MetaSVM 0.91
- CADD 13.80
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available
- p53 variant effect measured by cell growth: score -0.641