P34A (p.Pro34Ala) variant of TP53 (Cellular tumor antigen p53)
P34A (p.Pro34Ala) 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 Hereditary cancer-predisposing syndrome; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P34A (p.Pro34Ala) variant details
- p.Pro34Ala
- rs786201968
- ClinGen CA000012
- ClinVar RCV000165887
- ClinVar RCV000205889
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.43
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.86
- MetaSVM 0.87
- CADD 0.00
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not specified; not prov)
- EBI: Likely benign (in a sporadic cancer)
- UniProt: Likely benign (in a sporadic cancer)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- p53 variant effect measured by cell growth: score 0.619
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. (PMID 17392385)