N30I (p.Asn30Ile) variant of TP53 (Cellular tumor antigen p53)
N30I (p.Asn30Ile) in TP53 (Cellular tumor antigen p53) is a missense change. Clinical records from ClinVar, EBI, 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 0.37 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
N30I (p.Asn30Ile) variant details
- p.Asn30Ile
- rs2151045549
- ClinGen CA397848340
- cosmic curated COSV10502
- ClinVar RCV002021059
- Uncertain significance
- Li-Fraumeni syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.50
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 15.20
- PolyPhen-2 0.02
- SIFT 0.13
- ClinVar: Uncertain significance (Li-Fraumeni syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available
- p53 variant effect measured by cell growth: score -1.76
- Cited in: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. (PMID 17392385)
- Cited in: Li-Fraumeni Syndrome. (PMID 20301488)