P4R (p.Pro4Arg) variant of TP53 (Cellular tumor antigen p53)
P4R (p.Pro4Arg) in TP53 (Cellular tumor antigen p53) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Adrenocortical carcinoma, hereditary; Nasopharyngeal carcinoma; Colorectal cance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P4R (p.Pro4Arg) variant details
- p.Pro4Arg
- rs878854064
- ClinGen CA16615964
- ClinVar RCV000475451
- ClinVar RCV001010274
- Conflicting interpretations
- Adrenocortical carcinoma, hereditary; Nasopharyngeal carcinoma; Colorectal cance
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.53
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.92
- MetaSVM 0.99
- CADD 14.20
- ClinVar: Conflicting classifications of pathogenicity (Adrenocortical carcinoma, hereditary; Nasopharyngeal carcinoma;)
- 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 -2.1
- Cited in: Lynch Syndrome. (PMID 20301390)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)