G105A (p.Gly105Ala) variant of TP53 (Cellular tumor antigen p53)
G105A (p.Gly105Ala) 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 0.86 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G105A (p.Gly105Ala) variant details
- p.Gly105Ala
- rs587781504
- ClinGen CA397844723
- NCI-TCGA Cosmic COSV5270
- NCI-TCGA Cosmic COSV5276
- Uncertain significance
- Li-Fraumeni syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.857
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 1.00
- MetaSVM 0.91
- CADD 24.10
- ClinVar: Uncertain significance (Li-Fraumeni syndrome)
- EBI: Likely pathogenic (in sporadic cancers)
- UniProt: Likely pathogenic (in sporadic cancers)
- Population evidence available
- Structural context available
- p53 variant effect measured by cell growth: score 0.479
- 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)