G112S (p.Gly112Ser) variant of TP53 (Cellular tumor antigen p53)
G112S (p.Gly112Ser) 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; Adrenocortical carcinoma, hereditary; L. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G112S (p.Gly112Ser) variant details
- p.Gly112Ser
- rs1423803759
- ClinGen CA397844540
- cosmic curated COSV52850
- ClinVar RCV000581490
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Adrenocortical carcinoma, hereditary; L
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.39
- ESM-1b 0.00
- AlphaMissense 0.16
- CADD 21.90
- PolyPhen-2 0.75
- SIFT 0.70
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Li-Fraumeni syndrome 1;)
- EBI: Variant of uncertain significance (in sporadic cancers)
- UniProt: Uncertain significance (in sporadic cancers)
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available
- p53 variant effect measured by cell growth: score 0.388
- 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)