H214R (p.His214Arg) variant of TP53 (Cellular tumor antigen p53)
H214R (p.His214Arg) 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 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
H214R (p.His214Arg) variant details
- p.His214Arg
- rs1057519992
- ClinGen CA16040595
- cosmic curated COSV52670
- ClinVar RCV000477234
- Pathogenic
- Li-Fraumeni syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.819
- REVEL 0.89
- ESM-1b 1.00
- AlphaMissense 0.82
- MetaLR 0.98
- MetaSVM 1.03
- CADD 26.20
- ClinVar: Pathogenic (Li-Fraumeni syndrome)
- EBI: Pathogenic (in sporadic cancers)
- UniProt: Pathogenic (in sporadic cancers)
- Population evidence available
- Structural context available
- Cited in: Lynch Syndrome. (PMID 20301390)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)