R158H (p.Arg158His) variant of TP53 (Cellular tumor antigen p53)
R158H (p.Arg158His) in TP53 (Cellular tumor antigen p53) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Li-Fraumeni syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R158H (p.Arg158His) variant details
- p.Arg158His
- rs587782144
- Civic 1695
- ClinGen CA000227
- NCI-TCGA Cosmic COSV5267
- Pathogenic/Likely pathogenic
- Li-Fraumeni syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- REVEL 0.84
- ESM-1b 1.00
- AlphaMissense 0.92
- CADD 23.30
- PolyPhen-2 0.45
- SIFT 0.10
- ClinVar: Pathogenic/Likely pathogenic (not provided; Breast and/or ovarian cancer; Hereditary cancer-pr)
- EBI: Pathogenic (in LFS)
- UniProt: Pathogenic (in LFS)
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available
- p53 variant effect measured by cell growth: score 0.715
- Cited in: Lynch Syndrome. (PMID 20301390)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)