R175H (p.Arg175His) variant of TP53 (Cellular tumor antigen p53)
R175H (p.Arg175His) in TP53 (Cellular tumor antigen p53) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Li-Fraumeni syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R175H (p.Arg175His) variant details
- p.Arg175His
- rs28934578
- ClinGen CA000251
- NCI-TCGA Cosmic COSV5266
- cosmic curated COSV52661
- Pathogenic
- Li-Fraumeni syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.895
- REVEL 0.92
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 1.00
- MetaSVM 0.92
- CADD 23.40
- ClinVar: Pathogenic (Li-Fraumeni syndrome)
- EBI: Pathogenic (in LFS)
- UniProt: Pathogenic (in LFS)
- Most common in the HGDP:PATHAN population (allele frequency 0.14)
- Structural context available
- p53 variant effect measured by cell growth: score 0.17
- Cited in: Germline TP53 mutations and Li-Fraumeni syndrome. (PMID 12619118)
- Cited in: Evaluation of the molecular mechanisms involved in the gain of function of a Li-Fraumeni TP53 mutation. (PMID 15977174)