N29D (p.Asn29Asp) variant of TP53 (Cellular tumor antigen p53)
N29D (p.Asn29Asp) in TP53 (Cellular tumor antigen p53) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
N29D (p.Asn29Asp) variant details
- p.Asn29Asp
- rs1597375899
- ClinGen CA397848387
- ClinVar RCV001018048
- Ensembl rs1597375899
- Likely benign
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 10.70
- PolyPhen-2 0.01
- SIFT 0.58
- ClinVar: Likely benign (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- p53 variant effect measured by cell growth: score -0.641
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)